| Primary Identifier | MGI:2448530 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 230895 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable phospholipid transfer activity. Predicted to be involved in several processes, including intermembrane lipid transfer; macroautophagy; and positive regulation of mitophagy. Predicted to be active in endosome membrane and mitochondrial outer membrane. Is expressed in several structures, including adrenal gland; liver; male reproductive gland or organ; pancreas; and thymus. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 4. Orthologous to human VPS13D (vacuolar protein sorting 13 homolog D). PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators] |