Disease-gene associations mined from literature

Literature associating CLCN2 and cerebral palsy

CLCN2 [ENSP00000265593]

Chloride channel protein 2; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage- gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis (PubMed:29403011, PubMed:29403012). ECO:0000269|PubMed:19191339, ECO:0000269|PubMed:29403011,

Synonyms:  CLCN2,  CLCN2p,  hCLCN2,  A0A1B0GTJ3,  A0A1B0GTY0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM