DYSF - dysferlin Gene

Also Known as MMD1; FER1L1; LGMD2B; LGMDR2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8291

About DYSF

Cytogenetic location: 2p13.2 Genomic coordinates (GRCh38): 2:71,453,561-71,686,763 (from NCBI)

This gene has 22 transcripts (splice variants), 189 orthologues, 4 paralogues and is associated with 7 phenotypes. Broad expression in spleen (RPKM 14.1), placenta (RPKM 13.8) and 21 other tissues.

Summary

The protein encoded by this gene belongs to the Ferlin Family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

DYSF Products (14)

mRNA	Protein	Name
NM_001130455.2	NP_001123927.1	dysferlin isoform 2
NM_001130976.2	NP_001124448.1	dysferlin isoform 9
NM_001130977.2	NP_001124449.1	dysferlin isoform 10
NM_001130978.2	NP_001124450.1	dysferlin isoform 11
NM_001130979.2	NP_001124451.1	dysferlin isoform 12
NM_001130980.2	NP_001124452.1	dysferlin isoform 13
NM_001130981.2	NP_001124453.1	dysferlin isoform 14
NM_001130982.2	NP_001124454.1	dysferlin isoform 7
NM_001130983.2	NP_001124455.1	dysferlin isoform 6
NM_001130984.2	NP_001124456.1	dysferlin isoform 5
NM_001130985.2	NP_001124457.1	dysferlin isoform 4
NM_001130986.2	NP_001124458.1	dysferlin isoform 3
NM_001130987.2	NP_001124459.1	dysferlin isoform 1
NM_003494.4	NP_003485.1	dysferlin isoform 8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	24239457	GOA
enables calcium-dependent phospholipid binding	IMP IMP: Inferred from mutant phenotype	11959863	GOA
enables phospholipid binding	IDA IDA: Inferred from direct assay	24239457	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17185750	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within macrophage activation involved in immune response	IMP IMP: Inferred from mutant phenotype	18276788	GOA
acts upstream of or within monocyte activation involved in immune response	IMP IMP: Inferred from mutant phenotype	18276788	GOA
acts upstream of or within negative regulation of phagocytosis	IMP IMP: Inferred from mutant phenotype	18276788	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in T-tubule	IDA IDA: Inferred from direct assay	17185750	GOA
located in early endosome	IDA IDA: Inferred from direct assay	20595382	GOA
located in endocytic vesicle	IDA IDA: Inferred from direct assay	20595382	GOA
located in endosome	IDA IDA: Inferred from direct assay	20595382	GOA
located in late endosome	IDA IDA: Inferred from direct assay	20595382	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20595382	GOA
located in sarcolemma	IDA IDA: Inferred from direct assay	17185750	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DYSF Protein Structure

FerI

FerA

FerB

Pex24p

0
400
800
1200
1600
2000
2080 a.a.

Protein Preferred Names	Protein Names
dysferlin	dystrophy-associated fer-1-like 1

DYSF Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	DYSF	O75923	MYOM2	Homo sapiens	P54296	Y2H Fragment Pooling	23414517
Intra	DYSF	O75923	SGCG	Homo sapiens	Q13326	PLA	23414517
Intra	DYSF	O75923	MYBPC1	Homo sapiens	Q00872	Y2H Fragment Pooling	23414517
Intra	DYSF	O75923	TTN	Homo sapiens	Q8WZ42	Y2H Fragment Pooling	23414517

Cross: Cross-species interaction Intra: Intraspecies interaction

DYSF Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83291	Dysferlin Antibody (YA3036)	WB, IHC-P, ICC/IF	Human, Mouse

Related Diseases

Diseases	Alias
Miyoshi Muscular Dystrophy 1	Miyoshi Myopathy MMD1 Miyoshi Distal Myopathy Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive Miyoshi Myopathy 1 Mm Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive Distal Muscular Dystrophy, Miyoshi Type Miyoshi Muscular Dystrophy Mmd Muscular Dystrophy Distal Late-Onset Autosomal Recessive Dystrophy, Muscular, Miyoshi Type 1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Myopathy, Distal, With Anterior Tibial Onset	Distal Myopathy With Anterior Tibial Onset DMAT Distal Anterior Compartment Myopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2b Lgmd3 Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy Type 3 Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Dysferlinopathy	Dystrophinopathy
Qualitative Or Quantitative Defects Of Dysferlin	Dysferlinopathy
Congenital Myopathy, Paradas Type
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Miyoshi Muscular Dystrophy	Distal Myopathy Distal Muscular Dystrophy Miyoshi Myopathy Distal Myopathies Dystrophy, Muscular, Miyoshi Myopathy, Distal Distal Muscular Dystrophies
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Muscular Dystrophy-Dystroglycanopathy , Type C, 5	Lgmd2i Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i MDDGC5 Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency Limb-Girdle Muscular Dystrophy Type 2i Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 Lgmdr9 Muscular Dystrophy, Limb-Girdle, Type 2i Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related Fkrp-Related Limb-Girdle Muscular Dystrophy R9 Fkrp-Related Lgmd R9 Lgmd Due To Fkrp Deficiency Lgmd Type 2i Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related Muscular Dystrophy Limb-Girdle Type 2i Muscular Dystrophy-Dystroglycanopathy Type C 5 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 Dystrophy, Muscular, Limb-Girdle, Type 2i
Myopathy	Muscular Diseases Myopathies
Rippling Muscle Disease 2	Rippling Muscle Disease Rmd Lgmd1c RMD2 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly Lgmd1c, Formerly Limb-Girdle Muscular Dystrophy Type 1c Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency Muscular Dystrophy, Limb-Girdle, Type Ic Rippling Muscle Syndrome Limb-Girdle Muscular Dystrophy 1c Dystrophy, Muscular, Limb-Girdle, Type 1c Disease, Muscle, Rippling, Type 2 Rippling Muscle Disease 1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Muscular Dystrophy, Limb-Girdle, Type 2g Lgmd2g LGMDR7 Limb-Girdle Muscular Dystrophy, Type 2g Telethonin-Related Limb-Girdle Muscular Dystrophy R7 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Lgmd Due To Telethonin Deficiency Lgmd Type 2g Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency Limb-Girdle Muscular Dystrophy Type 2g Telethonin-Related Lgmd R7 Limb-Girdle Muscular Dystrophy 2g Dystrophy, Muscular, Limb-Girdle, Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	Leyden-Moebius Muscular Dystrophy Lgmd2a Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency Muscular Dystrophy, Limb-Girdle, Type 2a Pelvofemoral Muscular Dystrophy Primary Calpainopathy
Myositis	Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myositis Iim Imm Idiopathic Inflammatory Myopathies Myopathy, Familial Idiopathic Inflammatory Inflammatory Disorder Of Muscle Idiopathic Inflammatory Myopathy, Familial Inflammatory Myopathy, Idiopathic Myopathies Idiopathic Inflammatory Familial Idiopathic Inflammatory Myopathy
Muscular Dystrophy, Becker Type	Becker Muscular Dystrophy BMD Benign Pseudohypertrophic Muscular Dystrophy Benign Congenital Myopathy Becker Dystrophinopathy Becker'S Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Becker Dystrophy, Muscular, Becker Type Dystrophinopathy Becker Dystrophy Becker Type Dystrophy Bmd - [Becker Muscular Dystrophy]
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	Lgmd2l Muscular Dystrophy, Limb-Girdle, Type 2l
Miyoshi Muscular Dystrophy 3	MMD3 Miyoshi Myopathy 3 Distal Anoctaminopathy Miyoshi Muscular Dystrophy Type 3 Dystrophy, Muscular, Miyoshi, Type 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Lgmd2f Muscular Dystrophy, Limb-Girdle, Type 2f Limb-Girdle Muscular Dystrophy Type 2f LGMDR6 Muscular Dystrophy Limb-Girdle With Delta-Sarcoglyan Deficiency Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Delta-Sarcoglycan-Related Lgmd R6 Delta-Sarcoglycanopathy Lgmd Due To Delta-Sarcoglycan Deficiency Lgmd Type 2f Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy 2f Limb-Girdle Muscular Dystrophy, Type 2f Dystrophy, Muscular, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Sarcotubular Myopathy Lgmd2h Muscular Dystrophy, Limb-Girdle, Type 2h Limb-Girdle Muscular Dystrophy Type 2h LGMDR8 Muscular Dystrophy Hutterite Type Muscular Dystrophy, Hutterite Type Muscular Dystrophy Limb-Girdle Type 2h Trim32-Related Limb-Girdle Muscular Dystrophy R8 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Lgmd Due To Trim32 Deficiency Lgmd Type 2h Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency Trim32-Related Lgmd R8 Limb-Girdle Muscular Dystrophy 2h Dystrophy, Muscular, Limb-Girdle, Type 2h
Welander Distal Myopathy	WDM Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant Myopathy, Distal, Swedish Welander Distal Myopathy, Swedish Type Distal Myopathy, Swedish Type Distal Myopathy, Welander Type Late-Onset Autosomal Dominant Distal Muscular Dystrophy Swedish Distal Myopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	Lgmd2g Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Lgmd2e Muscular Dystrophy, Limb-Girdle, Type 2e LGMDR4 Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycan-Related Lgmd R4 Beta-Sarcoglycanopathy Lgmd Due To Beta-Sarcoglycan Deficiency Lgmd Type 2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy Type 2e Limb-Girdle Muscular Dystrophy 2e
Polymyositis	Pm - [Polymyositis]
Anterior Compartment Syndrome
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1 Deficiency Of Sarcoglycan Gamma Dmda1 Gamma-Sarcoglycanopathy Lgmd2c Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency Maghrebian Myopathy Muscular Dystrophy, Limb-Girdle, Type 2c Scarmd Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Limb-Girdle Muscular Dystrophy Type 1a	Lgmd1a Lgmd1 Muscular Dystrophy, Proximal, Type 1a Limb-Girdle Muscular Dystrophy, Type 1a Dystrophy, Muscular, Limb-Girdle, Type 1a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	Alpha-Sarcoglycanopathy Dmda2 Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 Lgmd2d Muscular Dystrophy, Limb-Girdle, Type 2d Primary Adhalinopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	Delta-Sarcoglycanopathy Lgmd2f Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy Type 2f
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	Lgmd2j Muscular Dystrophy, Limb-Girdle, Type 2j
Tibial Muscular Dystrophy	Tmd Udd Myopathy Distal Titinopathy Finnish Tibial Muscular Dystrophy Tardive Tibial Muscular Dystrophy Udd Type Distal Myopathy Udd Distal Myopathy Udd-Markesbery Muscular Dystrophy Distal Myopathy, Udd Type Distal Myopathies Tibial Muscular Dystrophy, Tardive
Nonaka Myopathy	Gne Myopathy Hibm Distal Myopathy With Rimmed Vacuoles Hereditary Inclusion Body Myopathy Ibm2 Inclusion Body Myopathy, Quadriceps-Sparing Qsm Dmrv Distal Myopathy, Nonaka Type Inclusion Body Myopathy 2 Inclusion Body Myopathy, Autosomal Recessive NM Nonaka Distal Myopathy Myopathy, Distal, With Or Without Rimmed Vacuoles Inclusion Body Myopathy, Hereditary, Autosomal Recessive Inclusion Body Myopathy Type 2 Quadriceps-Sparing Myopathy Quadriceps Sparing Myopathy Rimmed Vacuole Myopathy Inclusion Body Myopathy 2, Autosomal Recessive, Formerly Ibm2, Formerly Hibm2 Hereditary Inclusion Body Myopathy Type 2 Inclusion Body Myopathy 2, Autosomal Recessive Myopathy, Distal, With Rimmed Vacuoles Inclusion Body Myopathy Autosomal Recessive Myopathy, Inclusion Body, Type 2 Myopathy, Nonaka
Muscle Tissue Disease
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	Lgmd2x Muscular Dystrophy, Limb-Girdle, Type 2x
Myopathy, Centronuclear, 2	Myopathy, Centronuclear, Autosomal Recessive Autosomal Recessive Centronuclear Myopathy CNM2 Centronuclear Myopathy 2 Ar-Cnm Myotubular Myopathy, Autosomal Recessive Autosomal Recessive Myotubular Myopathy Centronuclear Myopathy Autosomal Recessive Myopathy, Centronuclear, Type 2
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	Lgmd2h Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency Muscular Dystrophy Hutterite Type Sarcotubular Myopathy Limb-Girdle Muscular Dystrophy Type 2h
Muscular Dystrophy-Dystroglycanopathy , Type C, 4	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Lgmd2m MDDGC4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13 Lgmdr13 Muscular Dystrophy, Limb-Girdle, Type 2m Muscular Dystrophy-Dystroglycanopathy Type C 4 Fukutin-Related Limb-Girdle Muscular Dystrophy R13 Autosomal Recessive Lgmd Type 2m Fukutin-Related Lgmd R13 Lgmd Type 2m Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4 Limb-Girdle Muscular Dystrophy Type 2m Mdgd4c Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c Dystrophy, Muscular, Limb-Girdle, Type 2m
Autosomal Dominant Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant
Myopathy, Distal, 4	Distal Myopathy With Posterior Leg And Anterior Hand Involvement MPD4 Williams Distal Myopathy Distal Muscular Dystrophy 4 Distal Abd-Filaminopathy Distal Myopathy 4 Myopathy, Distal, Type 4
Myopathy, Myofibrillar, 3	Myotilinopathy Myofibrillar Myopathy 3 MFM3 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Lgmd1a Muscular Dystrophy, Limb-Girdle, Type 1a Myopathy, Myofibrillar, Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1, Formerly Lgmd1, Formerly Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly Lgmd1a, Formerly Qualitative Or Quantitative Defects Of Myotilin Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency Distal Myotilinopathy Lgmd1 Limb-Girdle Muscular Dystrophy 1a Mfm Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1 Myopathy Myofibrillar Myotylin-Related Myopathy, Myofibrillar, Type 3
Muscular Disease
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Muscular Dystrophy, Congenital Merosin-Deficient, 1a	MDC1A Lama2-Related Muscular Dystrophy Atrophie Blanche Muscular Dystrophy, Congenital Merosin-Deficient Congenital Merosin-Deficient Muscular Dystrophy 1a Merosin-Negative Congenital Muscular Dystrophy Muscular Dystrophy White Matter Spongiosis Merosin Deficient Congenital Muscular Dystrophy Muscular Dystrophy Congenital, Merosin Negative Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient Cmd1a Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency Congenital Muscular Dystrophy Type 1a Laminin Alpha-2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy Muscular Dystrophy, Congenital, Merosin-Deficient Lama2 Md Laminin Alpha 2 Deficiency Laminin Alpha-2 Deficient Muscular Dystrophy Merosin-Deficient Muscular Dystrophy Muscular Dystrophy Due To Lama2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy 1a Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Dilated, 3b	Dilated Cardiomyopathy 3b CMD3B X-Linked Dilated Cardiomyopathy Xlcm Dmd-Associated Dilated Cardiomyopathy Cardiomyopathy, Dilated, X-Linked Dmd-Related Dilated Cardiomyopathy Xldc Cardiomyopathy, Dilated, X-Linked 3b Cardiomyopathy, Dilated, Type 3b
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular Dystrophy, Limb-Girdle, Type 1f Lgmd1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f LGMDD2 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2 Muscular Dystrophy Limb-Girdle Type 1f Tnp03-Related Limb-Girdle Muscular Dystrophy D2 Lgmd Type 1f Limb-Girdle Muscular Dystrophy Type 1f Limb-Girdle Muscular Dystrophy 1f Dystrophy, Muscular, Limb-Girdle, Type 1f
Myopathy With Extrapyramidal Signs	Proximal Myopathy With Extrapyramidal Signs MPXPS Myopathy, With Extrapyramidal Signs
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency Lgmd2q Muscular Dystrophy, Limb-Girdle, Type 2q
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Gnathodiaphyseal Dysplasia	GDD Osteogenesis Imperfecta With Unusual Skeletal Lesions Gnathodiaphyseal Sclerosis Osteogenesis Imperfecta, Levin Type Levin Syndrome 2 Dysplasia, Gnathodiaphyseal
Ullrich Congenital Muscular Dystrophy 1	Ullrich Congenital Muscular Dystrophy Ullrich Disease Ucmd Ullrich Scleroatonic Muscular Dystrophy Scleroatonic Muscular Dystrophy UCMD1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 Lgmdr22 Muscular Dystrophy, Scleroatonic Late Onset Scleroatonic Familial Myopathy Congenital Muscular Dystrophy, Ullrich Type
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscular Dystrophy, Limb-Girdle, Type 1e Lgmd1d Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d LGMDD1 Lgmd1e Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1 Limb-Girdle Muscular Dystrophy Type 1d Muscular Dystrophy, Limb-Girdle, Type 1d Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly Lgmd1d, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Muscular Dystrophy Limb-Girdle Type 1d Muscular Dystrophy Limb-Girdle Type 1e Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 Dnajb6-Related Lgmd D1 Lgmd Type 1d Limb-Girdle Muscular Dystrophy 1e Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1 Dystrophy, Muscular, Limb-Girdle, Type 1e
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Myopathy, Myofibrillar, 1	Desmin-Related Myofibrillar Myopathy Desmin-Related Myopathy MFM1 Myopathy, Myofibrillar, Desmin-Related Drm Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Myofibrillar Myopathy 1 Desminopathy Muscular Dystrophy, Limb-Girdle, Type 2r Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 Desminopathy, Primary Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly Arvd7, Formerly Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly Arvc7, Formerly Inclusion Body Myopathy 1, Autosomal Dominant, Formerly Ibm1, Formerly Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly Cmd1f And Lgmd1d, Formerly Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy Cdcd3, Formerly Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly Lgmd2r, Formerly Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r Arrhythmogenic Right Ventricular Cardiomyopathy 7 Arvc7 Arvd7 Autosomal Dominant Inclusion Body Myopathy 1 Cdcd3 Cmd1f And Lgmd1d Desminopathy Primary Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy Familial Arrhythmogenic Right Ventricular Dysplasia 7 Lgmd2r Limb-Girdle Muscular Dystrophy 2r Mfm Desmin-Related Myopathy Myofibrillar Desmin-Related Dystrophy, Muscular, Limb-Girdle, Type 2r
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	EDMD2 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Emd2 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Scapuloilioperoneal Atrophy With Cardiopathy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Hauptmann-Thannhauser Muscular Dystrophy Cardiomyopathy, Dilated, With Quadriceps Myopathy Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly Lgmd1b, Formerly Muscular Dystrophy, Proximal, Type 1b, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Lgmd1b Limb-Girdle Muscular Dystrophy 1b Muscular Dystrophy, Proximal, Type 1b Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
Glycogen Storage Disease Ii	Pompe Disease Glycogen Storage Disease Type Ii Acid Maltase Deficiency Gsd Ii Gaa Deficiency Alpha-1,4-Glucosidase Deficiency Glycogenosis Type Ii GSD2 Acid Alpha-Glucosidase Deficiency Amd Glycogen Storage Disease, Type Ii Pompe'S Disease Glycogen Storage Disease Type 2 Cardiomegalia Glycogenica Diffusa Acid Maltase Deficiency Disease Deficiency Of Alpha-Glucosidase Glycogenosis, Generalized, Cardiac Form Deficiency Of Glucoamylase Deficiency Of Maltase Generalized Glycogenosis Glycogenosis, Type 2 Lysosomal Alpha-1,4-Glucosidase Deficiency Glucosidase Acid-1,4-Alpha Deficiency Aglucosidase Alfa Deficiency Of Lysosomal Alpha-Glucosidase Glycogen Storage Disease Due To Acid Maltase Deficiency Alpha-1,4-Glucosidase Acid Deficiency Gsd Due To Acid Maltase Deficiency Gsd Type 2 Gsd Type Ii Glycogenosis Due To Acid Maltase Deficiency Glycogenosis Type 2 Glycogen Storage Disease 2 Cardiomegalia Glycogenica Glycogenosis Generalized Cardiac Form Glycogenosis Ii Gsd-Ii Storage Disease, Glycogen, Type Ii Generalized Glycogen Storage Disease Of Infants Cardiac Form Of Generalized Glycogenosis
Deafness, Autosomal Recessive 9	Auditory Neuropathy, Autosomal Recessive, 1 Neurosensory Nonsyndromic Recessive Deafness 9 DFNB9 Nsrd9 Autosomal Recessive Nonsyndromic Deafness 9 Autosomal Recessive Deafness 9 Nrsd9 AUNB1 Nonsyndromic Auditory Neuropathy Autosomal Recessive Nsran Deafness, Autosomal Recessive, 9 Deafness Neurosensory Autosomal Recessive 9 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 Non-Syndromic Recessive Hearing Loss 9 Deafness, Autosomal Recessive, Type 9 Auditory Neuropathy, Nonsyndromic Recessive
Cardiomyopathy, Dilated, 1g	Dilated Cardiomyopathy 1g CMD1G Cardiomyopathy, Dilated 1g Cardiomyopathy, Dilated, Type 1g
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Emery-Dreifuss Muscular Dystrophy	Edmd Emery-Dreifuss Syndrome Muscular Dystrophy, Emery-Dreifuss Humeroperoneal Neuromuscular Disease Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures Scapuloperoneal Syndrome, X-Linked Benign Scapuloperoneal Muscular Dystrophy With Early Contractures Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy Emery-Dreifuss Dystrophy, Muscular, Emery-Dreifuss Emd - [Emery-Dreifuss Muscular Dystrophy]
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Congenital Muscular Dystrophy-Dystroglycanopathy Type A	Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies Mddga Klissencephaly Type 2 With Muscular And Ocular Involvement Lissencephaly Type 2 With Muscular And Ocular Involvement
Myopathy, Distal, 1	Laing Distal Myopathy Laing Early-Onset Distal Myopathy MPD1 Distal Myopathy 1 Myopathy, Distal, Early-Onset, Autosomal Dominant Distal Myopathy Type 1 Gowers Disease Myopathy, Late Distal Hereditary Myopathy Distal, Type 1 Myopathy Distal Early-Onset Autosomal Dominant Myopathy Late Distal Hereditary Myopathy, Distal, Type 1 Welander Distal Myopathy
Myopathy, Centronuclear, X-Linked	X-Linked Myotubular Myopathy Xlmtm X-Linked Centronuclear Myopathy Xlcnm CNMX Mtm1 Myotubular Myopathy, X-Linked Mtmx Myotubular Myopathy 1 Centronuclear Myopathy X-Linked Myotubular Myopathy Mtm Cnm Xmtm Myotubular Myopathy Type 1
Oculopharyngeal Muscular Dystrophy	OPMD Muscular Dystrophy, Oculopharyngeal Dystrophy, Oculopharyngeal Muscular Oculopharyngeal Dystrophy Progressive Muscular Dystrophy, Oculopharyngeal Type Muscular Dystrophy Oculopharyngeal Dystrophy, Muscular, Oculopharyngeal
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS04105	DYSF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20722	Dysf Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27234	Dysf Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DYSF	MGD	MGI:1349385
Rattus norvegicus	DYSF	RGD	RGD:1311023
Felis catus	DYSF	VGNC	VGNC:61689
Bos taurus	DYSF	VGNC	VGNC:28282
Canis familiaris	DYSF	VGNC	VGNC:40159
Macaca mulatta	DYSF	VGNC	VGNC:72021
Others	DYSF	NCBI