Primary Identifier | MGI:1924415 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 242341 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification and vacuolar transport. Predicted to act upstream of or within monoatomic ion transport. Located in early endosome. Is expressed in several structures, including alimentary system; genitourinary system; limb; musculoskeletal system; and respiratory system. Orthologous to human ATP6V0D2 (ATPase H+ transporting V0 subunit d2). PHENOTYPE: Mice homozygous for a null mutation display osteopetrosis and impaired osteoclast maturation. [provided by MGI curators] |