C199476Level 6
CLCN2 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human CLCN2 wild-type allele is located in the vicinity of 3q27.1 and is approximately 15 kb in length. This allele, which encodes chloride channel protein 2, plays a role in direct transport of chloride ions, calcium ion homeostasis and the regulation of aldosterone synthase expression. Mutation of the gene is associated with familial hyperaldosteronism type 2 and leukoencephalopathy with ataxia.
**Synonyms:** - CIC-2 - CLC2 - Chloride Channel 2 Gene - Chloride Channel, Voltage-Sensitive 2 Gene - Chloride Voltage-Gated Channel 2 wt Allele - ECA2 - ECA3 - EGI11 - EGI3 - EGMA - EJM6 - EJM8 - HALD2 - LKPAT - clC-2
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Cross-system equivalences0
No cross-system equivalences mapped for this node.