PLEC - plectin Gene

Homo sapiens

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

Gene ID: 5339 | Gene type: protein coding

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 These names were superseded by plectin.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

PLEC Protein Structure

S10_plectin

Plectin

0
800
1600
2400
3200
4000
4684 a.a.

Protein Preferred Names

Protein Names

plectin

hemidesmosomal protein 1

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

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

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