rs752660550

This variant is located in the DTNBP1 gene.

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ClinVar annotation

Conflicting Classifications

4 submitters2 publications

not provided; not specified; Inborn genetic diseases

About DTNBP1

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]

View all DTNBP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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