Pallidin (PLDN) Antibody – Goat Polyclonal

The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]

PLDN: Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Defects in PLDN are the cause of Hermansky-Pudlak syndrome type 9 (HPS9). A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. 3 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 15q21.1

Cellular Component: cytoplasm; cytosol; endosome; extrinsic to membrane; nucleoplasm; SNARE complex; transport vesicle

Molecular Function: actin filament binding; identical protein binding; protein binding; protein homodimerization activity; syntaxin binding

Biological Process: anterograde axon cargo transport; anterograde synaptic vesicle transport; blood coagulation; melanocyte differentiation; melanosome organization and biogenesis; melanosome transport; neurite development; positive regulation of natural killer cell activation; positive regulation of pigment cell differentiation; secretion of lysosomal enzymes; synaptic vesicle docking during exocytosis

Disease: Hermansky-pudlak Syndrome 9