| Primary Identifier | MGI:1923507 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 76257 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables L-asparagine, sodium:proton antiporter activity; L-glutamine, sodium:proton antiporter activity; and L-histidine, sodium:proton antiporter activity. Involved in carboxylic acid transport and intracellular amino acid homeostasis. Acts upstream of or within carboxylic acid transport; cellular response to potassium ion starvation; and positive regulation of transcription by RNA polymerase II. Located in apical plasma membrane. Is expressed in several structures, including central nervous system; metanephros; pancreas; pericardium; and retina. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 102. Orthologous to human SLC38A3 (solute carrier family 38 member 3). PHENOTYPE: Mice homozygous for an ENU allele exhibit complete postnatal lethality between P18 and P20, altered amino acid levels in the serum, liver and brain, and decreased ammonia excretion. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
