PLEC - plectin Gene

Also Known as HD1; PCN; EBS1; EBSO; PLTN; EBS5A; EBS5B; EBS5C; EBS5D; EBSMD; EBSND; EBSOG; EBSPA; PLEC1; LGMD2Q; PLEC1b; LGMDR17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5339

About PLEC

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,915,153-143,976,745 (from NCBI)

This gene has 15 transcripts (splice variants), 149 orthologues, 36 paralogues and is associated with 14 phenotypes. Ubiquitous expression in skin (RPKM 18.0), colon (RPKM 16.2) and 25 other tissues.

Summary

Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the Cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two Other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the Other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]

PLEC Products (9)

mRNA	Protein	Name
NM_000445.5	NP_000436.2	plectin isoform 1c
NM_001410941.1	NP_001397870.1	plectin isoform 2
NM_201378.4	NP_958780.1	plectin isoform 1f
NM_201379.3	NP_958781.1	plectin isoform 1e
NM_201380.4	NP_958782.1	plectin isoform 1
NM_201381.3	NP_958783.1	plectin isoform 1d
NM_201382.4	NP_958784.1	plectin isoform 1b
NM_201383.3	NP_958785.1	plectin isoform 1g
NM_201384.3	NP_958786.1	plectin isoform 1a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables ankyrin binding	IPI IPI: Inferred from physical interaction	21223964	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12482924	GOA
enables structural constituent of muscle	IMP IMP: Inferred from mutant phenotype	21109228	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in hemidesmosome assembly	IDA IDA: Inferred from direct assay	12482924	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in hemidesmosome	IDA IDA: Inferred from direct assay	12482924	GOA
located in sarcolemma	IDA IDA: Inferred from direct assay	21109228	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

PLEC Protein Structure

S10_plectin

Plectin

0
800
1600
2400
3200
4000
4684 a.a.

Protein Preferred Names	Protein Names
plectin	hemidesmosomal protein 1

PLEC Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	PLEC	Q15149	FUS	Homo sapiens	P35637	Pull Down	22240165
Intra	PLEC	Q15149	KRT14	Homo sapiens	P02533	Crosslink	30021884
Intra	PLEC	Q15149	ITGB4	Homo sapiens	P16144	Fluorescence	19242489

Cross: Cross-species interaction Intra: Intraspecies interaction

PLEC Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P83170	Plectin Antibody (YA2915)	WB, IHC-P, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Epidermolysis Bullosa Simplex 5a, Ogna Type	Epidermolysis Bullosa Simplex, Ogna Type EBS5A Ebsog Epidermolysis Bullosa Simplex Ogna Type Ebs-Og Ebs-O Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement Plec-Related Intermediate Ebs Without Extracutaneous Involvement Ebs1 Ebso Epidermolysis Bullosa Simplex 1 O-Ebs Simplex Epidermolysis Bullosa_ogna Type
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Muscular Dystrophy, Limb-Girdle, Type 2q Lgmd2q LGMDR17 Plectin-Related Limb-Girdle Muscular Dystrophy R17 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Lgmd Type 2q Limb-Girdle Muscular Dystrophy Type 2q Plectin-Related Lgmd R17 Limb-Girdle Muscular Dystrophy 2q Limb-Girdle Muscular Dystrophy, Type 2q
Epidermolysis Bullosa Simplex 5b, With Muscular Dystrophy	Epidermolysis Bullosa Simplex With Muscular Dystrophy Md-Ebs Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy EBS5B Ebsmd Mdebs Limb-Girdle Muscular Dystrophy With Epidermolysis Bullosa Simplex Ebs-Md Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy Epidermolysa Bullosa Simplex With Muscular Dystrophy Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy Ebs With Muscular Dystrophy Muscular Dystrophy With Epidermolysis Bullosa Simplex Epidermolysa Bullosa Simplex, With Muscular Dystrophy
Epidermolysis Bullosa Simplex 5c, With Pyloric Atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia EBS5C Ebspa Ebs With Pyloric Atresia Ebs-Pa Epidermolysis Bullosa Simplex, With Pyloric Atresia
Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive	Epidermolysis Bullosa Simplex With Nail Dystrophy EBS5D Ebsnd Epidermolysis Bullosa Simplex 5d, With Nail Dystrophy Epidermolysis Bullosa Simplex, With Nail Dystrophy
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
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia	Junctional Epidermolysis Bullosa With Pyloric Atresia Carmi Syndrome Epidermolysis Bullosa, Junctional, With Pyloric Atresia Jeb-Pa JEB5B Epidermolysis Bullosa Junctionalis With Pyloric Atresia Aplasia Cutis Congenita With Gastrointestinal Atresia Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita Eb-Pa-Acc Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Jeb With Pyloric Atresia Epidermolysis Bullosa Letalis, With Pyloric Atresia Pa-Jeb Epidermolysis Bullosa With Pyloric Atresia
Epidermolysis Bullosa Simplex	Ebs Epidermolysis Bullosa Intraepidermic Epidermolytic Epidermolysis Bullosa
Epidermolysis Bullosa Simplex 1a, Generalized Severe	Epidermolysis Bullosa Simplex, Dowling-Meara Type Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type EBS1A Ebsdm Epidermolysis Bullosa Simplex Dowling-Meara Type Epidermolysis Bullosa Simplex, Herpetiformis Ebs-Dm Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type Ebs-Gen Sev Epidermolysis Bullosa Herpetiformis Dowling-Meara Type Generalized Severe Epidermolysis Bullosa Simplex Dowling-Meara Type Epidermolysis Bullosa Simplex Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form Autosomal Dominant Generalized Ebs, Severe Form Epidermolysis Bullosa Simplex Herpetiformis Dm-Ebs Epidermolysis Bullosa Simplex, Generalized Severe Epidermolysis Bullosa Herpetiformis, Dowling-Meara Epidermolysis Bullosa Herpetiformis Dowling-Meara
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
Epidermolysis Bullosa With Pyloric Atresia	Eb-Pa Carmi Syndrome Junctional Epidermolysis Bullosa With Pyloric Atresia Pa-Jeb
Epidermolysis Bullosa Simplex Localized Type	Epidermolysis Bullosa Simplex, Weber-Cockayne Type Weber-Cockayne Syndrome Ebs-Loc Epidermolysis Bullosa Simplex Of Palms And Soles Epidermolysis Bullosa Simplex Weber-Cockayne Type Epidermolysis Bullosa Simplex, Localized Epidermolysis Bullosa Of Hands And Feet Weber-Cockayne Type Epidermolysis Bullosa Simplex Localized Epidermolysis Bullosa Simplex Localized Ebs
Aplasia Cutis Congenita	Aplasia Cutis Congenita Of Limbs Recessive Congenital Absence Of Skin On The Upper Or Lower Limbs Recessive Aplasia Cutis Congenita Of The Limbs Aplasia Cutis Congenita Nonsyndromic Congenital Defect Of Skull And Scalp Scalp Defect Congenital
Myopathy	Muscular Diseases Myopathies
Epidermolysis Bullosa	Acantholysis Bullosa Eb
Pyloric Atresia
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
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Alexander Disease	Alexander'S Disease ALXDRD Alexanders Leukodystrophy Axd Demyelinogenic Leukodystrophy Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia Alx Dysmyelinogenic Leukodystrophy Fibrinoid Degeneration Of Astrocytes Leukodystrophy With Rosenthal Fibers Alexander Disease Type Ii Axd Type Ii Alexander Disease Type I Axd Type I Alexanders Disease Alexander'S Leukodystrophy
Pemphigoid
Bullous Pemphigoid	Benign Pemphigus Senile Dermatitis Herpetiformis Old Age Pemphigus Parapemphigus Pemphigoid Pemphigoid Bullous Pemphigoid, Bullous
Progressive Muscular Dystrophy
Epithelial Basement Membrane Dystrophy	Ebmd Corneal Dystrophy, Epithelial Basement Membrane Cogan Corneal Dystrophy Microcystic Corneal Dystrophy Anterior Basement Membrane Dystrophy Cogan Microcystic Epithelial Dystrophy Map-Dot-Fingerprint Dystrophy Microscopic Cystic Corneal Dystrophy
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
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Junctional Epidermolysis Bullosa Non-Herlitz Type	Junctional Epidermolysis Bullosa, Non-Herlitz Type Gabeb Generalized Atrophic Benign Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Jeb-Nh Gen Jen-Nh Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Paraneoplastic Pemphigus
Epidermolytic Hyperkeratosis	Bullous Congenital Ichthyosiform Erythroderma Bullous Ichthyosiform Erythroderma EHK Bullous Erythroderma Ichthyosiformis Congenita Of Brocq Bcie Bie Epidermolytic Ichthyosis Ichthyosis Bullosa Of Siemens Superficial Epidermolytic Ichthyosis Hyperkeratosis, Epidermolytic Congenital Bullous Ichthyosiform Erythroderma Bullous Type Ichthyosis Epidermolytic Palmoplantar Hyperkeratosis Bullous Ichthyosiform Erythroderma Congenita Bullous Erythroderma Ichthyosiforme Sei Epidermolytic Hyperkeratosis Late-Onset Epidermolytic Hyperkeratosis, Late-Onset
Epidermolysis Bullosa Simplex Generalized Type	Epidermolysis Bullosa Simplex, Koebner Type Epidermolysis Bullosa Simplex Koebner Type Epidermolysis Bullosa Simplex, Generalized Ebs, Generalized Ebs-K Epidermolysis Bullosa Simplex, Generalized Non-Dowling-Meara Generalized Ebs Epidermolysis Bullosa Simplex Kobner
Linear Skin Defects With Multiple Congenital Anomalies 2	LSDMCA2 Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies Aplcc Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism And Other Congenital Anomalies
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
Epithelial And Subepithelial Dystrophy
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
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
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
Scapuloperoneal Myopathy
Urethral Stricture	Ankylurethria Urethral Stenosis Urethral Contracture Urethral Obstruction Meatal Stenosis Nos Constriction Of Urethra Contraction Of Urethra Stricture Of Urinary Meatus Urethral Obliteration Urethral Narrowing Pinpoint Meatus Pinhole Meatus Nos Urethral Occlusion
Kindler Syndrome	Poikiloderma Of Kindler Bullous Acrokeratotic Poikiloderma Of Kindler And Weary Congenital Bullous Poikiloderma KNDLRS Poikiloderma, Hereditary Acrokeratotic Poikiloderma, Congenital, With Bullae, Weary Type Kindler'S Syndrome Poikiloderma Congenital With Bullae Weary Type Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary Hereditary Acrokeratotic Poikiloderma Weary Syndrome Poikiloderma Hereditary Acrokeratotic Potassium Deficiency
Axonal Neuropathy
Myopathy, Myofibrillar, 2	Alpha-B Crystallinopathy Myofibrillar Myopathy 2 MFM2 Myopathy, Myofibrillar, Alpha-B Crystallin-Related Myopathy, Desmin-Related, Associated With Mutation In The Cryab Gene Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy Alpha-B Crystallin-Related Late-Onset Myopathy Alpha-B Crystallin-Related Late-Onset Distal Myopathy Late-Onset Distal Crystallinopathy Alpha-B Crystallinopathy With Cataract Desmin-Related Myopathy With Cataract Mfm Alpha-B Crystallin-Related Myofibrillar Myopathy Alpha-B Crystallin-Related Myofibrillar Myopathy With Or Without Cataract And/Or Cardiomyopathy Myopathy Cardioskeletal Desmin-Related With Cataract Myopathy Desmin-Related Associated With Mutation In The Cryab Gene Myopathy, Cardioskeletal, Desmin-Related, With Cataract Myopathy, Myofibrillar, Type 2
Recessive Dystrophic Epidermolysis Bullosa	Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type Rdeb, Hallopeau-Siemens Type Severe Generalized Rdeb Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Rdeb Generalisata Gravis Rdeb, Severe Generalized Rdeb-Sev Gen Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized Hallopeau-Siemens Disease
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]
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 Dystrophy, Congenital, Megaconial Type	Megaconial Type Congenital Muscular Dystrophy Congenital Megaconial Myopathy Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities Megaconial Congenital Muscular Dystrophy MDCMC Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities Megaconial Congénital Muscular Dystrophy Dystrophy, Muscular, Congenital, Megaconial Type
Palmoplantar Keratoderma, Epidermolytic	Epidermolytic Palmoplantar Keratoderma EPPK Keratosis Palmaris Et Plantaris Familiaris Tylosis Keratosis Of Greither Diffuse Nonepidermolytic Palmoplantar Keratoderma Keratoderma, Palmoplantar, Epidermolytic Unna-Thost Palmoplantar Keratoderma Epidermolytic Palmoplantar Keratoderma Of Voerner Ppke Keratoderma, Epidermolytic Palmoplantar Palmoplantar Keratoderma, Vorner Type Hyperkeratosis, Localized Epidermolytic Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type Epidermolytic Palmoplantar Keratoderma Of Vörner Hyperkeratosis Palmoplantar Localized Epidermolytic Diffuse Neppk Ppk Diffusa Circumscripta Thost-Unna Disease Thost-Unna Palmoplantar Keratoderma Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type Epidermolytic Palmoplantar Keratoderma Of Vorner Ehppk Epidermolytic Unna-Thost Disease Localized Epidermolytic Hyperkeratosis Palmoplantar Keratoderma Vorner Type Unilateral Palmoplantar Verrucous Nevus UPVN Keratoderma, Palmoplantar, Diffuse Hyperkeratosis Palmoplantar Keratoderma, Nonepidermolytic Epidermolytic Palmoplantar Keratoderma Vorner Type Type B Tylosis Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas Type A Tylosis
Cardiomyopathy, Dilated, 1g	Dilated Cardiomyopathy 1g CMD1G Cardiomyopathy, Dilated 1g Cardiomyopathy, Dilated, Type 1g
Transient Bullous Dermolysis Of The Newborn	TBDN Transient Bullous Of The Newborn Epidermolysis Bullosa Dystrophica, Neonatal Form Dystrophic Epidermolysis Bullosa, Neonatal Deb, Bullous Dermolysis Of The Newborn Deb-Bdn Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form Self-Improving Dystrophic Epidermolysis Bullosa Self-Improving Deb Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Pachyonychia Congenita 1	Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome Pachyonychia Congenita Syndrome PC1 Pachyonychia Congenita, Jadassohn-Lewandowsky Type Congenital Pachyonychia Pachyonychia Congenita, Type 1 Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly Jadassohn-Lewandowsky Syndrome, Formerly Jackson-Lawler Type Pachyonychia Congenita Pachyonychia Congenita Type 1 Jackson-Lawler Syndrome Jadassohn-Lewandowski Syndrome Pc Pachyonychia Congenita Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Type Pachyonychia Congenita Jackson Lawler Type Pc-1 Pachyonychia Congenita, Jadassohn Lewandowsky Type Pachyonychia Congenita, Type 2
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
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]
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Familial Woolly Hair Syndrome	Wooly Hair Familial Wooly Hair Syndrome Hereditary Woolly Hair Syndrome Hereditary Wooly Hair Syndrome Woolly Hair Syndrome With Woolly Hair Wooly Hair Syndrome
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
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
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)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS10676	PLEC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19935	Plec Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26437	Plec Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLEC	RGD	RGD:621649
Canis familiaris	PLEC	VGNC	VGNC:44665
Macaca mulatta	PLEC	VGNC	VGNC:76173
Bos taurus	PLEC	VGNC	VGNC:53873
Mus musculus	PLEC	MGD	MGI:1277961
Others	PLEC	NCBI