This gene encodes a protein that may play a role innorganelle biogenesis associated with melanosomes, platelet densengranules, and lysosomes. This protein interacts withnHermansky-Pudlak syndrome 6 protein and may interact with thencytoplasmic domain of integrin, alpha-3. Mutations in this gene arenassociated with Hermansky-Pudlak syndrome type 5. Multiplentranscript variants encoding two distinct isoforms have beennidentified for this gene.
应用类型
WB
免疫原
This HPS5 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 88-116 amino acids from the N-terminal region of human HPS5.
