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)

ALDH1B1 does not contain introns in the coding sequence

Mutations in this gene may cause adolescent onset distal myopathy

FOXO3 likely functions as a trigger for apoptosis through expression of genes necessary for cell death

a group of calcium-dependent phospholipid-binding proteins

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.