QuickView for DTNBP1;jsessionid=3D4AEACED21A30153B62EF741611D7E7 (gene)

Gene Symbol:

DTNBP1 Homo sapiens

Full name:

dystrobrevin binding protein 1

Synonyms:

BLOC1S8, DBND, HPS7, My031, SDY, dysbindin, BLOC-1 subunit 8, Hermansky-Pudlak syndrome 7 protein, biogenesis of lysosomal organelles complex-1, subunit 8, biogenesis of lysosome-related organelles complex 1 subunit 8, dysbindin-1

Genomic Location:

Chr 6: 15631017-15771250

Description:

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 dyst...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Bos taurus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Cytogenetic Map:

6p22.3

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