HPS4
Sign in to saveAlso known as LE, BLOC3S2, HPS4, biogenesis of lysosomal organelles complex 3 subunit 2, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.
Gene data
HPS4- Name
- HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
- Type
- protein-coding
- Aliases
- BLOC3S2, LE
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 11123
- exact match
- identifiers.org/ncbigene/89781
- genomic end
- 26879803
- genomic start
- 26839389
- cytogenetic location
- 22q12.1
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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. Five transcript variants encoding different isoforms have been found for this gene. In addition, transcript variants utilizing alternative polyadenylation signals exist.