AP3D1 Chromosome 19
Adaptor related protein complex 3 subunit delta 1
Upload your DNA to see your personal genotypes for variants in AP3D1.
What This Gene Does
The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
"Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000065000
Associated Conditions (3)
Inborn genetic diseases
AP3D1-related disorder
Hermansky-Pudlak syndrome 10
Key Variants
RS1251912299
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143105452
Conflicting classifications of pathogenicity
AP3D1-related disorder, Inborn genetic diseases, AP3D1-related disorder
Health Risk
RS200458511
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201042393
Conflicting classifications of pathogenicity
Health Risk
RS201127154
Conflicting classifications of pathogenicity
AP3D1-related disorder, AP3D1-related disorder
Health Risk
RS201804540
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 10, Hermansky-Pudlak syndrome 10
Health Risk
RS371796422
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374563911
Conflicting classifications of pathogenicity
Health Risk
RS534639518
Conflicting classifications of pathogenicity
Health Risk
RS534880813
Conflicting classifications of pathogenicity
Inborn genetic diseases, AP3D1-related disorder, Inborn genetic diseases
Health Risk
RS564009118
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS568823322
Conflicting classifications of pathogenicity
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1251912299 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143105452 | Health Risk | Conflicting classifications of pathogenicity | AP3D1-related disorder, Inborn genetic diseases, AP3D1-related disorder |
| RS200458511 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201042393 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201127154 | Health Risk | Conflicting classifications of pathogenicity | AP3D1-related disorder, AP3D1-related disorder |
| RS201804540 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 10, Hermansky-Pudlak syndrome 10 |
| RS371796422 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374563911 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS534639518 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS534880813 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, AP3D1-related disorder, Inborn genetic diseases |
| RS564009118 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS568823322 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750853882 | Health Risk | Conflicting classifications of pathogenicity | AP3D1-related disorder, AP3D1-related disorder |
| RS756601658 | Health Risk | Conflicting classifications of pathogenicity | AP3D1-related disorder, AP3D1-related disorder |
| RS764644332 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767777964 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770655238 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774547405 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS903781940 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS879255646 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 10, Hermansky-Pudlak syndrome 10 |