Analysis of HPS5 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2396-LGZ)

Introduction

Official Full Name: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2<br />Also known as: AIBP63; BLOC2S2<br />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.