Symbol: Name: ID: |
HPS3 Hermansky-Pudlak syndrome 3 GFS:4793 |
Gene name: | HPS3 |
Chromosome: | 3q24 |
Previous Symbols: | |
Previous Names: | |
Aliases: | SUTAL |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2153839 | Rat Genome Database ID: | RGD:1310548 |
HGNC ID: | HGNC:15597 | RefSeq IDs: | NM_032383 |
Entrez Gene ID: | 84343 | Ensembl Gene ID: | ENSG00000163755 |
VEGA IDs: | OTTHUMG00000159548 | UniProt ID: | Q969F9 |
UCSC ID: | uc003ewu.1 | OMIM ID: | 606118 |
Pubmed: | PMID11455388 | ||
CCDS IDs: | CCDSCCDS3140.1 |
Hermansky-Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.
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. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Involved in early stages of melanosome biogenesis and maturation (By similarity).
Products for HPS3 gene
Catalog | Product Name | Application | Company |
GFS:E04793 | Hermansky-Pudlak syndrome 3; ELISA kit | ELISA | n/a |
GFS:A04793 | Hermansky-Pudlak syndrome 3; Anti | ANTIBODIES | n/a |
GFS:P04793 | Hermansky-Pudlak syndrome 3; Protien | Protien | n/a |