Your search for "hps5" returned 205 TaqMan® SNP Genotyping Assays
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
AA2-028, AB1-018, AI646796, AIBP63, AL022647, BLOC2S2, C85120, HAZE, HPS5, HZ, MAROON, MR, RU-2, RU2
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