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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for DTNBP1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID84062
Official gene symbolDTNBP1
Full namedystrobrevin binding protein 1
Aliases,DBND,DKFZp564K192,FLJ30031,HPS7,MGC20210,My031,SDY,
Gene summaryThis 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]
LocationChromosome: 6   Locus: 6p22.3
Gene position15663289 - 15523032  Map Viewer
Gene orientationminus
Gene size140258 bp
Gene sequence
OMIM ID607145