DTNBP1

dystrobrevin binding protein 1

2 disorders 1 causative 1 untyped 6p22.3 gene with protein product

HGNC:17328 Monarch NCBI Gene 84062 ENSG00000047579 UniProt Q96EV8 OMIM 607145

Aliases: Dysbindin, My031, HPS7, DBND, BLOC1S8.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Hermansky-Pudlak Syndrome	causative germline loss of function	mechanism: BLOC-1 Complex Deficiency subtype: HPS-7 scoped to subtype: HPS-7
Schizophrenia	untyped Risk Factor

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Hermansky-Pudlak syndrome 7 MONDO:0013559	AR	Definitive 2021-02-24	Hermansky-Pudlak Syndrome causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.