| Primary Identifier | MGI:1196458 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 12492 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including cholesterol binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including aminophospholipid transport; protein targeting to lysosome; and regulation of glucosylceramidase activity. Acts upstream of or within endosome to plasma membrane protein transport and sensory perception of sound. Located in endocytic vesicle membrane; lysosome; and plasma membrane. Is expressed in several structures, including brain; genitourinary system; liver; and retina. Used to study progressive myoclonus epilepsy. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy 4. Orthologous to human SCARB2 (scavenger receptor class B member 2). PHENOTYPE: Homozygous mutation of this gene results in renal dysfunction, progressive deafness, and progressive demylination of the peripheral nerves. Mutant animals show a 2-fold increased water consumption along with increased urine volume, and develop an enlarged, ball-like trunk with age. [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
