Full name: sodium leak channel, non-selective

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CLIFAHDD; CanIon; IHPRF; IHPRF1; INNFD; VGCNL1; bA430M15.1

Summary: This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]

Expression: Biased expression in brain (RPKM 11.1), adrenal (RPKM 2.5) and 5 other tissues

Gene size: 363404bp

Exon count: 48