ASIC5

Chr 4

acid sensing ion channel subunit family member 5

Also known as: ACCN5, BASIC, HINAC, INAC

NCBI Gene: 51802 ENSG00000256394 UniProt: Q9NY37 OMIM: 616693

The protein forms bile acid-gated sodium channels that control sodium transport in intestinal and bile duct epithelial cells, and may regulate electrical activity in cerebellar cells involved in motor coordination and balance. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. This gene shows very low constraint against loss-of-function mutations, consistent with autosomal recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, UniProt

This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.37

LOEUF

Mechanism· predicted