DTNBP1

Chr 6

dystrobrevin binding protein 1

Also known as: BLOC1S8, DBND, HPS7, My031, SDY

NCBI Gene: 84062 ENSG00000047579 UniProt: Q96EV8

DTNBP1 encodes dysbindin, a component of the BLOC-1 complex required for biogenesis of lysosome-related organelles such as melanosomes and platelet dense granules, and plays a role in synaptic vesicle trafficking and neurotransmitter release. Mutations cause Hermansky-Pudlak syndrome type 7, an autosomal recessive disorder characterized by oculocutaneous albinism and bleeding due to platelet storage pool deficiency. The gene is extremely tolerant to loss-of-function variants in the general population (pLI nearly 0), suggesting that complete loss of function may be required for disease manifestation.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHermansky-Pudlak syndrome 7

Clinical highlights

Gene-disease validity (ClinGen)

Hermansky-Pudlak syndrome 7 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.98

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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