DISEASES

Disease-gene associations mined from literature

Literature on CLCN1

CLCN1 [ENSP00000339867]

Chloride channel protein 1; Voltage-gated chloride channel (PubMed:8112288, PubMed:9122265, PubMed:12456816). Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction. ECO:0000269|PubMed:26007199, ECO:0000269|PubMed:26502825, ECO:0000269|PubMed:26510092, ECO:0000269|PubMed:7951242, ECO:0000269|PubMed:8112288, ECO:0000269|PubMed:9122265,; Belongs to the chloride channel (TC 2.A.49) family. ClC- 1/CLCN1 subfamily.

Synonyms:  CLCN1,  CLCN1p,  hCLCN1,  A0A3B3IU72,  H7C0N6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM