Primary Identifier | MGI:1922870 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 75620 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in vesicle-mediated transport. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome. Orthologous to human KXD1 (KxDL motif containing 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced melanosomes in the choroid and retinal pigment epithelium and decreased platelet dense granule number. [provided by MGI curators] |