BLOC1S5 Chromosome 6
Biogenesis of lysosomal organelles complex 1 subunit 5
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What This Gene Does
This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 1 subunits
Locus Type
gene with protein product
Location
6p24.3
Ensembl
ENSG00000188428
Associated Conditions (3)
Hermansky-Pudlak syndrome 11
BLOC1S5-related disorder
Hermansky-Pudlak syndrome
Key Variants
RS1757380540
Likely pathogenic
Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome 11
Health Risk
RS2480776581
Likely pathogenic
Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome 11
Health Risk
RS764780126
Likely pathogenic
BLOC1S5-related disorder, BLOC1S5-related disorder
Health Risk
RS1757381494
Pathogenic
Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome 11
Health Risk
RS1763106978
Pathogenic
Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 11
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1757380540 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome 11 |
| RS2480776581 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome 11 |
| RS764780126 | Health Risk | Likely pathogenic | BLOC1S5-related disorder, BLOC1S5-related disorder |
| RS1757381494 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome 11 |
| RS1763106978 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 11 |