Primary Identifier | MGI:1860443 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 56187 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Rab geranylgeranyltransferase activity. Acts upstream of or within protein geranylgeranylation. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytoplasm. Used to study Hermansky-Pudlak syndrome. Orthologous to human RABGGTA (Rab geranylgeranyltransferase subunit alpha). PHENOTYPE: Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. [provided by MGI curators] |