Symbol: Name: ID: |
HPS6 Hermansky-Pudlak syndrome 6 GFS:7639 |
Gene name: | HPS6 |
Chromosome: | 10q24.32 |
Previous Symbols: | |
Previous Names: | |
Aliases: | FLJ22501 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2181763 | Rat Genome Database ID: | RGD:631341 |
HGNC ID: | HGNC:18817 | RefSeq IDs: | NM_024747 |
Entrez Gene ID: | 79803 | Ensembl Gene ID: | ENSG00000166189 |
VEGA IDs: | OTTHUMG00000018945 | UniProt ID: | Q86YV9 |
UCSC ID: | uc001kuj.2 | OMIM ID: | 607522 |
Pubmed: | PMID12548288 | ||
CCDS IDs: | CCDSCCDS7527.1 |
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008].
Function: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.
Products for HPS6 gene
Catalog | Product Name | Application | Company |
GFS:E07639 | Hermansky-Pudlak syndrome 6; ELISA kit | ELISA | n/a |
GFS:A07639 | Hermansky-Pudlak syndrome 6; Anti | ANTIBODIES | n/a |
GFS:P07639 | Hermansky-Pudlak syndrome 6; Protien | Protien | n/a |