| Primary Identifier | MGI:3040688 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 241919 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables gamma-aminobutyric acid transmembrane transporter activity. Involved in gamma-aminobutyric acid import. Located in lysosomal membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut gland; hemolymphoid system; and sensory organ. Used to study blindness and sensorineural hearing loss. Human ortholog(s) of this gene implicated in retinitis pigmentosa 68. Orthologous to human SLC7A14 (solute carrier family 7 member 14). PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal eye electrophysiology, thin retinal outer nuclear and decreased total retinal thickness. A p.G330R mutation additionally leads to progressive sensorineural hearing loss. [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
