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HPS4 is 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.
Gene Name: | Hermansky-Pudlak Syndrome 4 |
Synonyms: | HPS4, Hermansky-Pudlak syndrome 4, KIAA1667, LE, Light-ear protein homolog |
Target Sequences: | NM_022081 NP_071364.4 Q9NQG7 |
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