| ncRNA Symbol: | HPS1 | | Full Name: | HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 | | Category: | mRNA | | Synonyms: | BLOC3S1|HPS | | Chromosome: | chr10 | | Strand: | - | | Coordinate: | | Start Site(bp): | 98416198 | End Site(bp): | 98446947 |
| | Gene Summary: | This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] | | External Links: | |
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