POMT1 - protein O-mannosyltransferase 1 Gene

Also Known as RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1; LGMDR11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10585

About POMT1

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:131,502,918-131,523,799 (from NCBI)

This gene has 77 transcripts (splice variants), 200 orthologues, 3 paralogues and is associated with 10 phenotypes. Broad expression in testis (RPKM 20.7), brain (RPKM 7.5) and 25 other tissues.

Summary

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

POMT1 Products (20)

mRNA	Protein	Name
NM_001077365.2	NP_001070833.1	protein O-mannosyl-transferase 1 isoform b
NM_001077366.2	NP_001070834.1	protein O-mannosyl-transferase 1 isoform c
NM_001136113.2	NP_001129585.1	protein O-mannosyl-transferase 1 isoform b
NM_001136114.2	NP_001129586.1	protein O-mannosyl-transferase 1 isoform d
NM_001353193.2	NP_001340122.2	protein O-mannosyl-transferase 1 isoform a
NM_001353194.2	NP_001340123.1	protein O-mannosyl-transferase 1 isoform c
NM_001353195.2	NP_001340124.1	protein O-mannosyl-transferase 1 isoform d
NM_001353196.2	NP_001340125.1	protein O-mannosyl-transferase 1 isoform e
NM_001353197.2	NP_001340126.2	protein O-mannosyl-transferase 1 isoform f
NM_001353198.2	NP_001340127.2	protein O-mannosyl-transferase 1 isoform f
NM_001353199.2	NP_001340128.2	protein O-mannosyl-transferase 1 isoform g
NM_001353200.2	NP_001340129.1	protein O-mannosyl-transferase 1 isoform h
NM_001374689.1	NP_001361618.1	protein O-mannosyl-transferase 1 isoform l
NM_001374690.1	NP_001361619.1	protein O-mannosyl-transferase 1 isoform i
NM_001374691.1	NP_001361620.1	protein O-mannosyl-transferase 1 isoform d
NM_001374692.1	NP_001361621.1	protein O-mannosyl-transferase 1 isoform d
NM_001374693.1	NP_001361622.1	protein O-mannosyl-transferase 1 isoform j
NM_001374695.1	NP_001361624.1	protein O-mannosyl-transferase 1 isoform k
NM_001411024.1	NP_001397953.1	protein O-mannosyl-transferase 1 isoform m
NM_007171.4	NP_009102.4	protein O-mannosyl-transferase 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables mannosyltransferase activity	IMP IMP: Inferred from mutant phenotype	28512129	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein O-linked mannosylation	IMP IMP: Inferred from mutant phenotype	28512129	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	14699049	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

POMT1 Protein Structure

PMT

MIR

0
200
400
600
747 a.a.

Protein Preferred Names	Protein Names
protein O-mannosyl-transferase 1	dolichyl-phosphate-mannose--protein mannosyltransferase 1

Related Diseases

Diseases	Alias
Muscular Dystrophy-Dystroglycanopathy , Type C, 1	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k Lgmd2k MDDGC1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11 Lgmdr11 Muscular Dystrophy, Limb-Girdle, Type 2k Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome Limb-Girdle Muscular Dystrophy Type 2k Muscular Dystrophy Limb-Girdle Type 2k Muscular Dystrophy-Dystroglycanopathy Type C 1 Pomt1-Related Limb-Girdle Muscular Dystrophy R11 Lgmd Type 2k Pomt1-Related Lgmd R11 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 Dystrophy, Muscular, Limb-Girdle, Type 2k Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1	MDDGB1 Muscular Dystrophy-Dystroglycanopathy , Type B1 Muscular Dystrophy, Congenital, Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Type B1 Cmd Due To Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1 Muscular Dystrophy Congenital Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Dystrophy, Muscular, Dystroglycanopathy , Type B1
Muscular Dystrophy-Dystroglycanopathy , Type A, 1	Hard Syndrome MDDGA1 Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Muscular Dystrophy-Dystroglycanopathy , Type A1 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related Hydrocephalus, Agyria, And Retinal Dysplasia Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1 Cerebroocular Dysgenesis Cod Hard +/- E Syndrome Hydrocephalus-Agyria-Retinal Dysplasia Meb Muscle-Eye-Brain Disease Muscle-Eye-Brain Disease Pomt1-Related Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a Walker-Warburg Syndrome Walker-Warburg Syndrome Pomt1-Related Warburg Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy , Type A1 Walker-Warburg Congenital Muscular Dystrophy Muscle Eye Brain Disease
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
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Congenital Muscular Dystrophy With Intellectual Disability	Cmd With Intellectual Disability Cmd-Mr
Congenital Muscular Dystrophy Without Intellectual Disability	Cmd Without Intellectual Disability Cmd-No Mr Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability
Muscle Eye Brain Disease	Muscle-Eye-Brain Disease Muscle-Eye-Brain Syndrome Meb Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3 Meb Syndrome Santavuori Congenital Muscular Dystrophy
Congenital Muscular Dystrophy With Cerebellar Involvement	Cmd With Cerebellar Involvement Cmd-Crb
Hydrocephalus, Congenital, 1	Hydrocephaly Ventriculomegaly Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 HYC1 Congenital Non-Communicating Hydrocephalus Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly Congenital Obstructive Hydrocephalus Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 Hydrocephalus
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Muscular Dystrophy-Dystroglycanopathy , Type B, 5	Mdc1c Muscular Dystrophy-Dystroglycanopathy Type B5 MDDGB5 Muscular Dystrophy, Congenital, 1c Muscular Dystrophy, Congenital, Fkrp-Related Congenital Muscular Dystrophy 1c Fkrp-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5 Muscular Dystrophy Congenital Type 1c Muscular Dystrophy Fkrp-Related
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 A, 4	Fukuyama Congenital Muscular Dystrophy Fcmd MDDGA4 Fukuyama Type Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Cmd Fukuyama Muscular Dystrophy Fukuyama Syndrome Muscular Dystrophy, Congenital Progressive, With Mental Retardation Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Congenital, With Central Nervous System Involvement Polymicrogyria With Muscular Dystrophy Congenital Muscular Dystrophy, Fukuyama Type Fktn-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4 Cerebromuscular Dystrophy Fukuyama Type Congenital Muscular Dystrophy Fukuyama Type Micropolygyria With Muscular Dystrophy Muscle-Eye-Brain Disease Fktn-Related Walker-Warburg Syndrome Fktn-Related
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
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1 Mddga1 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
Muscular Dystrophy-Dystroglycanopathy	Cmd Due To Dystroglycanopathy Congenital Muscular Dystrophy Due To Dystroglycanopathy Mddg Dystrophy, Muscular, Dystroglycanopathy
Ablepharon-Macrostomia Syndrome	Ablepharon Macrostomia Syndrome AMS Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies Eye Abnormalities
Muscular Dystrophy-Dystroglycanopathy , Type C, 2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n Lgmd2n MDDGC2 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14 Lgmdr14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related Limb-Girdle Muscular Dystrophy Type 2n Muscular Dystrophy, Limb-Girdle, Type 2n Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related Muscular Dystrophy-Dystroglycanopathy Type C 2 Pomt2-Related Limb-Girdle Muscular Dystrophy R14 Lgmd Type 2n Pomt2-Related Lgmd R14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 Mdgd2c Dystrophy, Muscular, Limb-Girdle, Type 2n
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2 Mddga2 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2
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
Muscular Dystrophy-Dystroglycanopathy , Type B, 6	Muscular Dystrophy-Dystroglycanopathy Type B6 MDDGB6 Mdc1d Muscular Dystrophy, Congenital, Type 1d Congenital Muscular Dystrophy Type 1d Dystrophy, Muscular, Dystroglycanopathy , Type B6 Muscular Dystrophy, Congenital, Large-Related Congenital Muscular Dystrophy Large-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6 Muscular Dystrophy Large-Related
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12 Mddga12 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
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
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3 Mddga3 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3
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
Cardiomyopathy, Dilated, 1d	Dilated Cardiomyopathy 1d CMD1D Left Ventricular Noncompaction 6, Included Lvnc6, Included Left Ventricular Noncompaction 6 Cardiomyopathy, Dilated 1d
Muscular Dystrophy-Dystroglycanopathy , Type C, 3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o MDDGC3 Lgmd2o Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15 Lgmdr15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related Muscular Dystrophy, Limb-Girdle, Type 2o Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Type C3 Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15 Lgmd Type 2o Limb-Girdle Muscular Dystrophy Type 2o Pomgnt1-Related Lgmd R15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3 Dystrophy, Muscular, Limb-Girdle, Type 2o
Cobblestone Lissencephaly	Lissencephaly Type 2 Lissencephaly, Cobblestone
Retinitis Pigmentosa 86	RP86 Retinitis Pigmentosa, Type 86
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 Recessive Limb-Girdle Muscular Dystrophy Type 2l	Lgmd2l Muscular Dystrophy, Limb-Girdle, Type 2l
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5 Mddga5 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related
Hydrophthalmos
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
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
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, 1g	Dilated Cardiomyopathy 1g CMD1G Cardiomyopathy, Dilated 1g Cardiomyopathy, Dilated, Type 1g
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	Lgmd2j Muscular Dystrophy, Limb-Girdle, Type 2j
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	EDMD1 Emd1 Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures X-Linked Emery-Dreifuss Muscular Dystrophy 1 Humeroperoneal Neuromuscular Disease X-Linked Emery-Dreifuss Muscular Dystrophy Scapuloperoneal Syndrome, X-Linked, Formerly Humeroperoneal Neuromuscular Disease, Formerly Scapuloperoneal Syndrome, X-Linked Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures Scapuloperoneal Syndrome X-Linked X-Edmd Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
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
Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation Ebsmp Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering Ebs-Mp EBS2F Ebs With Mottled Pigmentation Epidermolysis Bullosa Simplex-Mp Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering Epidermolysis Bullosa Simplex, With Mottled Pigmentation
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	EDMD4 Emery-Dreifuss Muscular Dystrophy 4 With Variable Features Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 Emd4 Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
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
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
Myopathy	Muscular Diseases Myopathies
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
Muscle Tissue Disease
Physical Disorder	Physical Illness
Muscular Disease
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
Polymicrogyria	Pmg
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
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
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
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
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10870	POMT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	POMT1	MGD	MGI:2138994
Canis familiaris	POMT1	VGNC	VGNC:44810
Felis catus	POMT1	VGNC	VGNC:102968
Bos taurus	POMT1	VGNC	VGNC:33158
Macaca mulatta	POMT1	VGNC	VGNC:109508
Rattus norvegicus	POMT1	RGD	RGD:620078
Others	POMT1	NCBI