HPS1 Chromosome 10
HPS1 biogenesis of lysosomal organelles complex 3 subunit 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. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"Biogenesis of lysosomal organelles complex 3 |MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000107521
Associated Conditions (8)
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome
HPS1-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Hermansky-Pudlak syndrome with pulmonary fibrosis
Key Variants
RS115265574
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
Health Risk
RS11592273
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
Health Risk
RS138771756
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
Health Risk
RS139061260
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, HPS1-related disorder, Hermansky-Pudlak syndrome 1
Health Risk
RS142347792
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, HPS1-related disorder
Health Risk
RS142893758
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
Health Risk
RS142934882
Conflicting classifications of pathogenicity
HPS1-related disorder, Inborn genetic diseases, Hermansky-Pudlak syndrome 1
Health Risk
RS143323128
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Inborn genetic diseases, Hermansky-Pudlak syndrome 1
Health Risk
RS143522382
Conflicting classifications of pathogenicity
Inborn genetic diseases, HPS1-related disorder, Inborn genetic diseases
Health Risk
RS145042327
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
Health Risk
RS1450496925
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
Health Risk
RS145327298
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (211)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS552340796 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS750909242 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS757883936 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS758028806 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS758797992 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS760395614 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS764927038 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS769446880 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS773323079 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, HPS1-related disorder |
| RS962689701 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS972096803 | Health Risk | Pathogenic/Likely pathogenic | HPS1-related disorder, Hermansky-Pudlak syndrome 1, HPS1-related disorder |