Primary Identifier | MGI:88116 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 11984 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable P-type proton-exporting transporter activity and ubiquitin protein ligase binding activity. Involved in synaptic vesicle lumen acidification. Part of proton-transporting V-type ATPase complex. Is expressed in several structures, including alimentary system; blastocyst; genitourinary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in early-onset epilepsy 3 and thyroid gland carcinoma. Orthologous to human ATP6V0C (ATPase H+ transporting V0 subunit c). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality. [provided by MGI curators] |