HPS3 Chromosome 3
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
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What This Gene Does
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 2
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000163755
Associated Conditions (6)
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome
HPS3-related disorder
Inborn genetic diseases
Hepatocellular carcinoma
Hermansky-Pudlak syndrome 2
Key Variants
RS113381494
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder
Health Risk
RS1343390851
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
Health Risk
RS138987987
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, HPS3-related disorder, Hermansky-Pudlak syndrome 3
Health Risk
RS141832148
Conflicting classifications of pathogenicity
HPS3-related disorder, Inborn genetic diseases, HPS3-related disorder
Health Risk
RS141883346
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
Health Risk
RS141916243
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
Health Risk
RS142027515
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder
Health Risk
RS144099522
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, HPS3-related disorder
Health Risk
RS145158238
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Inborn genetic diseases, Hermansky-Pudlak syndrome
Health Risk
RS148168280
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder
Health Risk
RS150262900
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
Health Risk
RS1723945036
Conflicting classifications of pathogenicity
HPS3-related disorder, HPS3-related disorder
Health Risk
All Variants (251)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS868868714 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |