HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
Gene ID: 84343, updated on 3-Apr-2024Gene type: protein coding
Also known as: SUTAL; BLOC2S1
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- Go to complete Gene record for HPS3
- Go to Variation Viewer for HPS3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hermansky-Pudlak syndrome 3 | See labs |
Genomic context
- Location:
- 3q24
- Sequence:
- Chromosome: 3; NC_000003.12 (149129638..149173732)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HPS3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Albinism Database Mutations of the Hermansky-Pudlak Syndrome-3 gene (HPS3)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HPS3 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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