HPS6
Sign in to saveAlso known as BLOC2S3, HPS6, biogenesis of lysosomal organelles complex 2 subunit 3, HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the HPS6 gene.
Gene data
HPS6- Name
- HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
- Type
- protein-coding
- Aliases
- BLOC2S3
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].
via MyGene.info
Gene · Ensembl
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
- Symbol
- HPS6
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:102,065,349-102,068,036
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 11691
- exact match
- identifiers.org/ncbigene/79803
- genomic end
- 102068036
- genomic start
- 102065349
- cytogenetic location
- 10q24.32
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the HPS6 gene.
== Function == This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).