Phospholipase C, Delta 1 (PLCD1) Antibody – Rabbit Polyclonal

This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

PLCD1: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development. Defects in PLCD1 are the cause of nail disorder non- syndromic congenital type 3 (NDNC3). NDNC3 is a nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.1.4.11; Carbohydrate Metabolism - inositol phosphate; Phospholipase

Chromosomal Location of Human Ortholog: 3p22-p21.3

Cellular Component: cytoplasm; plasma membrane; cytosol

Molecular Function: signal transducer activity; phosphatidylserine binding; GTPase activating protein binding; calcium ion binding; phosphoinositide phospholipase C activity

Biological Process: inositol phosphate metabolic process; phospholipid metabolic process; angiogenesis; lipid catabolic process; regulation of cell proliferation

Disease: Nail Disorder, Nonsyndromic Congenital, 3