HPS4
Hermansky-Pudlak syndrome 4
Synonyms:
LE
Species:
Human HPS4 (89781), Mouse Hps4 (192232), Rat Hps4 (304555), chicken HPS4 (416907), domestic cat HPS4 (101083975), sheep HPS4 (101118387), dog HPS4 (486330), domestic guinea pig Hps4 (100721935), Horse HPS4 (100059474), naked mole-rat Hps4 (101714464) ...More
UniProtKB ID:
Gene ID:
- Human(89781) Summary: This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
- Mouse(192232) Hermansky-Pudlak syndrome 4 homolog (human)
- Rat(304555) Hermansky-Pudlak syndrome 4
- chicken(416907) Hermansky-Pudlak syndrome 4
- domestic cat(101083975) Hermansky-Pudlak syndrome 4
- sheep(101118387) Hermansky-Pudlak syndrome 4
- dog(486330) Hermansky-Pudlak syndrome 4
- domestic guinea pig(100721935) Hermansky-Pudlak syndrome 4
- Horse(100059474) Hermansky-Pudlak syndrome 4
- naked mole-rat(101714464) Hermansky-Pudlak syndrome 4
- Zebrafish(393296) Hermansky-Pudlak syndrome 4
- cow(615386) Hermansky-Pudlak syndrome 4
- fruit fly(37009) Hermansky-Pudlak Syndrome 4 ortholog
- Domestic Rabbit(100338186) Hermansky-Pudlak syndrome 4
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