| ncRNA Symbol: | HPS4 | | Full Name: | HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 | | Category: | mRNA | | Synonyms: | BLOC3S2|LE | | Chromosome: | chr22 | | Strand: | - | | Coordinate: | | Start Site(bp): | 26443423 | End Site(bp): | 26483837 | | | Gene Summary: | 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] | | External Links: | |
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