Symbol: Name: ID: |
HPS4 Hermansky-Pudlak syndrome 4 GFS:4981 |
Gene name: | HPS4 |
Chromosome: | 22cen-q12.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | KIAA1667, LE |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2177742 | Rat Genome Database ID: | RGD:1308070 |
HGNC ID: | HGNC:15844 | RefSeq IDs: | NM_022081 |
Entrez Gene ID: | 89781 | Ensembl Gene ID: | ENSG00000100099 |
VEGA IDs: | OTTHUMG00000030459 | UniProt ID: | Q9NQG7 |
UCSC ID: | uc003aci.2 | OMIM ID: | 606682 |
Pubmed: | PMID11836498 PMID 12663659 | ||
CCDS IDs: | CCDSCCDS13835.1 CCDS CCDS46677.1 |
Hermansky-Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.
Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Function: May function in the pathway of organelle biogenesis.
Products for HPS4 gene
Catalog | Product Name | Application | Company |
GFS:E04981 | Hermansky-Pudlak syndrome 4; ELISA kit | ELISA | n/a |
GFS:A04981 | Hermansky-Pudlak syndrome 4; Anti | ANTIBODIES | n/a |
GFS:P04981 | Hermansky-Pudlak syndrome 4; Protien | Protien | n/a |