HPS5 Polyclonal Antibody, 50ul Plasma Defects in this gene have

Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP)

Semaphorins are involved in numerous functions

a glycine/phenylalanine (G/F)-rich region

also known as component X of the pyruvate dehydrogenase complex

HPS5 Polyclonal Antibody, 50ul Plasma Defects in this gene haveThis 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.