DTNBP1 Chromosome 6
Dystrobrevin binding protein 1
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What This Gene Does
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]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 1 subunits
Locus Type
gene with protein product
Location
6p22.3
Ensembl
ENSG00000047579
Associated Conditions (6)
DTNBP1-related disorder
Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome
Inborn genetic diseases
Hepatocellular carcinoma
Gastric cancer
Key Variants
RS146113366
Conflicting classifications of pathogenicity
Health Risk
RS199770715
Conflicting classifications of pathogenicity
Health Risk
RS202198942
Conflicting classifications of pathogenicity
DTNBP1-related disorder, DTNBP1-related disorder
Health Risk
RS746234584
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7
Health Risk
RS752074481
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
Health Risk
RS752660550
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS753618520
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS77460377
Conflicting classifications of pathogenicity
Hepatocellular carcinoma, Gastric cancer, Hepatocellular carcinoma
Health Risk
RS78181071
Conflicting classifications of pathogenicity
Health Risk
RS1772009067
Likely pathogenic
DTNBP1-related disorder, DTNBP1-related disorder
Health Risk
RS2113807931
Likely pathogenic
Health Risk
RS2127784434
Likely pathogenic
Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146113366 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199770715 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202198942 | Health Risk | Conflicting classifications of pathogenicity | DTNBP1-related disorder, DTNBP1-related disorder |
| RS746234584 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7 |
| RS752074481 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS752660550 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753618520 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS77460377 | Health Risk | Conflicting classifications of pathogenicity | Hepatocellular carcinoma, Gastric cancer, Hepatocellular carcinoma |
| RS78181071 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1772009067 | Health Risk | Likely pathogenic | DTNBP1-related disorder, DTNBP1-related disorder |
| RS2113807931 | Health Risk | Likely pathogenic | — |
| RS2127784434 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7 |
| RS2533372260 | Health Risk | Likely pathogenic | — |
| RS104893945 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7 |
| RS2113769198 | Health Risk | Pathogenic | — |
| RS2113810317 | Health Risk | Pathogenic | — |
| RS2533581626 | Health Risk | Pathogenic | — |
| RS727502866 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7 |
| RS367702294 | Health Risk | Pathogenic/Likely pathogenic | DTNBP1-related disorder, DTNBP1-related disorder |
| RS746781620 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS757126788 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7 |