Primary Identifier | MGI:102462 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 20544 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sodium:proton antiporter activity. Acts upstream of or within several processes, including cardiac muscle cell differentiation; response to acidic pH; and sodium ion transport. Located in apical plasma membrane. Part of transporter complex. Is expressed in several structures, including alimentary system; early conceptus; gonad; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 19 and congestive heart failure. Orthologous to human SLC9A1 (solute carrier family 9 member A1). PHENOTYPE: Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands. [provided by MGI curators] |