Invitrogen™ HPS1 Monoclonal Antibody (5G12G2)

Description

MA5-15381 targets HPS1 in indirect ELISA, WB applications and shows reactivity with Human samples. The MA5-15381 immunogen is purified recombinant fragment of HPS1 expressed in E. Coli..

Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous, autosomal recessive disorder. It is characterized by oculocutaneous albinism, lysosomal storage defects and prolonged bleeding due to platelet storage pool deficiency. There are 10 HPS genes encoding HPS proteins that all interact within three distinct ubiquitously expressed protein complexes or biogenesis of lysosome-related organelle complexes. Defects in these genes cause HPS. HSP-1 is a component of multiple cytoplasmic organelles and is important for their normal development and function. It plays a role in intracellular protein sorting.