| Primary Identifier | MGI:1915213 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 67963 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cholesterol binding activity. Involved in cholesterol efflux and intracellular cholesterol transport. Acts upstream of or within several processes, including cholesterol storage; sterol metabolic process; and sterol transport. Located in extracellular space. Is active in lysosome. Is expressed in brain; paravertebral ganglion; respiratory system; stomach; and ventral grey horn. Used to study Niemann-Pick disease. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Orthologous to human NPC2 (NPC intracellular cholesterol transporter 2). PHENOTYPE: Homozygotes for a hypomorphic allele exhibit tremors, ataxia, weight loss, changes in lipid homeostasis, NK and T cell physiology, abnormal lysosome morphology, reduced NK cell number, Purkinje cell loss, and premature death. Homozygotes for a gene-trap allele show an identical immune phenotype. [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
