Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Sequence of this protein is as follows: MLETLRERLL SVQQDFTSGL KTLSDKSREA KVKSKPRTVP FLPKYSAGLE LLSRYEDTWA ALHRRAKDCA SAGELVDSEV VMLSAHWEKK KTSLVELQEQ LQQLPALIAD LESMTANLTH LEASFEEVEN NLLHLEDLCG QCELERCKHM QSQQLENYKK NKRKELETFK AELDAEHAQK VLEMEHTQQM KLKERQKFFE EAFQQDMEQY LSTGYLQIAE RREPIGSMSS MEVNVDMLEQ MDLMDISDQE ALDVFLNSGG EENTVLSPAL GPESSTCQNE ITLQVPNPSE LRAKPPSSSS TCTDSATRDI SEGGESPVVQ SDEEEVQVDT ALATSHTDRE ATPDGGEDSD S
Dtnbp1 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 are associated with Hermansky-Pudlak syndrome type 7. This protein may also be associated with schizophrenia.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: biogenesis of lysosomal organelles complex-1, subunit 8; Biogenesis of lysosome-related organelles complex 1 subunit 8; BLOC-1 subunit 8; DKFZp564K192; DTBP1; Dysbindin; Dysbindin-1; Dystrobrevin-binding protein 1; FLJ30031; Hermansky-Pudlak syndrome 7 protein; HPS7 protein; Hps7-like protein; MGC20210; OTTHUMP00000221462; OTTHUMP00000221485; RP1-147M19.1
Gene Aliases: BLOC1S8; DBND; DTNBP1; HPS7; My031; SDY
UniProt ID: (Human) Q96EV8
Entrez Gene ID: (Human) 84062
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