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.
In the Vinony graph
Within Vinony's link graph, HPS6 is referenced by 83 other articles, and connects out to PubMed, human chromosome 10 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 10.
Its subject is documented across 5 Wikipedia language editions.
Gene data
HPS6- Name
- HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
- Type
- protein-coding
- Position
- 102,065,349–102,068,036 (+)
- Aliases
- BLOC2S3
- Ensembl
- ENSG00000166189
- RefSeq RNA
- NM_024747.6
- RefSeq protein
- NP_079023.2
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].
Gene Ontology
Biological process
Molecular function
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
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 11691
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/79803
- genomic end
- 102068036
- genomic start
- 102065349
- chromosome
- human chromosome 10
- cytogenetic location
- 10q24.32
via Wikidata · CC0
~1 min read
Encyclopedic overview
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).
Excerpted from Wikipedia’s “HPS6” article, available under the CC BY-SA 4.0 licence.