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PLEC - plectin
- Synonym(s) : PCN, PLTN
- Previous symbols and names : EBS1, PLEC1, epidermolysis bullosa simplex 1 (ogna), plectin 1, intermediate filament binding protein 500kda, plectin 1, intermediate filament binding protein, 500kd
- Type : gene with protein product
- Chromosomal location : 8q24.3
- OMIM: 601282
- HGNC: 9069
- UniProtKB: Q15149
- Genatlas: PLEC
- Ensembl: ENSG00000178209
- IUPHAR-DB: -
- Reactome: Q15149
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive limb-girdle muscular dystrophy type 2Q
- Disease-causing germline mutation(s) in Epidermolysis bullosa simplex, Ogna type
- Disease-causing germline mutation(s) in Epidermolysis bullosa simplex with muscular dystrophy
- Disease-causing germline mutation(s) in Epidermolysis bullosa simplex with pyloric atresia
: AssessedAdditional information
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