Primary Identifier | MGI:107956 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 20541 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ankyrin binding activity; calcium:sodium antiporter activity; and transmembrane transporter binding activity. Involved in several processes, including cellular response to caffeine; metal ion transport; and vascular associated smooth muscle contraction. Acts upstream of or within several processes, including embryonic organ development; metal ion transport; and negative regulation of protein serine/threonine kinase activity. Located in several cellular components, including T-tubule; basolateral plasma membrane; and postsynaptic density. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and nose. Human ortholog(s) of this gene implicated in hypertension. Orthologous to human SLC8A1 (solute carrier family 8 member A1). PHENOTYPE: Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. [provided by MGI curators] |