| Primary Identifier | MGI:2177763 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 192236 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein dimerization activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including intracellular zinc ion homeostasis; positive regulation of natural killer cell activation; and secretion of lysosomal enzymes. Predicted to be located in cytoplasmic vesicle. Predicted to be part of BLOC-3 complex. Used to study Hermansky-Pudlak syndrome 1 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1). PHENOTYPE: Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
