HPS3
Hermansky-Pudlak syndrome 3
Sinónimos:
SUTAL
Especie:
Human HPS3 (84343), Mouse Hps3 (12807), Rat Hps3 (310288), Zebrafish hps3 (777758), chicken HPS3 (425047), domestic guinea pig Hps3 (100716761), naked mole-rat Hps3 (101717679), sheep HPS3 (101122241), Domestic Rabbit HPS3 (100339408), dog HPS3 (485709) ...Más
ID UniProtKB:
ID del gen:
- Human(84343) Summary: This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]
- Mouse(12807) Hermansky-Pudlak syndrome 3 homolog (human)
- Rat(310288) Hermansky-Pudlak syndrome 3 homolog (human)
- Zebrafish(777758) Hermansky-Pudlak syndrome 3
- chicken(425047) Hermansky-Pudlak syndrome 3
- domestic guinea pig(100716761) Hermansky-Pudlak syndrome 3
- naked mole-rat(101717679) Hermansky-Pudlak syndrome 3
- sheep(101122241) Hermansky-Pudlak syndrome 3
- Domestic Rabbit(100339408) Hermansky-Pudlak syndrome 3
- dog(485709) Hermansky-Pudlak syndrome 3
- Horse(100058614) Hermansky-Pudlak syndrome 3
- cow(783104) Hermansky-Pudlak syndrome 3
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