DTNBP1
dystrobrevin binding protein 1
Synonyms:
BLOC1S8, DBND, HPS7, My031, SDY
Species:
Human DTNBP1 (84062), Mouse Dtnbp1 (94245), Rat Dtnbp1 (641528), naked mole-rat Dtnbp1 (101713330), dog DTNBP1 (610315), domestic cat DTNBP1 (101093270), cow DTNBP1 (506612), sheep DTNBP1 (100145862), chicken DTNBP1 (420840), domestic guinea pig Dtnbp1 (100729346)
UniProtKB ID:
Gene ID:
- Human(84062) Summary: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
- Mouse(94245) dystrobrevin binding protein 1
- Rat(641528) dystrobrevin binding protein 1
- naked mole-rat(101713330) dystrobrevin binding protein 1
- dog(610315) dystrobrevin binding protein 1
- domestic cat(101093270) dystrobrevin binding protein 1
- cow(506612) dystrobrevin binding protein 1
- sheep(100145862) dystrobrevin binding protein 1
- chicken(420840) dystrobrevin binding protein 1
- domestic guinea pig(100729346) dystrobrevin binding protein 1
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