PLA2G6 Antibody – Rabbit Polyclonal

The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]

PLA2G6: Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F- actin polymerization at the pseudopods. Defects in PLA2G6 are the cause of neurodegeneration with brain iron accumulation type 2B (NBIA2B). A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. Defects in PLA2G6 are the cause of neurodegeneration with brain iron accumulation type 2A (NBIA2A); also known as Seitelberger disease. NBIA2A is a neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. Defects in PLA2G6 are the cause of Parkinson disease type 14 (PARK14). An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Lipid Metabolism - alpha-linolenic acid; Phospholipase; EC 3.1.1.4; Lipid Metabolism - ether lipid; Lipid Metabolism - arachidonic acid; Lipid Metabolism - glycerophospholipid; Lipid Metabolism - linoleic acid

Chromosomal Location of Human Ortholog: 22q13.1

Cellular Component: membrane; mitochondrion; cytoplasm; microtubule organizing center; cytosol

Molecular Function: calmodulin binding; phospholipase A2 activity; ATP-dependent protein binding; calcium-independent phospholipase A2 activity

Biological Process: cardiolipin biosynthetic process; urinary bladder smooth muscle contraction; maternal process involved in pregnancy; glycerophospholipid biosynthetic process; negative regulation of synaptic transmission, glutamatergic; chemotaxis; positive regulation of vasodilation; memory; elevation of cytosolic calcium ion concentration; phospholipid metabolic process; innate immune response; positive regulation of protein amino acid phosphorylation; lipid catabolic process; positive regulation of exocytosis

Disease: Parkinson Disease 14, Autosomal Recessive; Neurodegeneration With Brain Iron Accumulation 2b; Neurodegeneration With Brain Iron Accumulation 2a