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 8.0.0) Predicted to be involved in mitochondrion organization; positive regulation of mitophagy; and protein localization to organelle. Is expressed in 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] |