Platelet-Activating Factor Acetylhydrolase Ib Subunit Alpha (PAFAH1B1) ELISA Kit for Human

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

PAFAH1B1: Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet- activating factor (PAF) by removing the acetyl group at the SN-2 position. Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Defects in PAFAH1B1 are the cause of lissencephaly type 1 (LIS1); also known as classic lissencephaly. LIS1 is characterized by agyria or pachgyria and disorganization of the clear neuronal lamination of normal six-layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. LIS1 is associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. Defects in PAFAH1B1 are the cause of subcortical band heterotopia (SBH). SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric ribbons of gray matter found in the central white matter between the cortex and the ventricular surface. Defects in PAFAH1B1 are a cause of Miller-Dieker lissencephaly syndrome (MDLS). MDLS is a contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition. Belongs to the WD repeat LIS1/nudF family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation; Lipid Metabolism - ether lipid

Chromosomal Location of Human Ortholog: 17p13.3

Cellular Component: astral microtubule; axon cytoplasm; cell cortex; cell leading edge; cell soma; centrosome; cytosol; extracellular exosome; kinesin complex; kinetochore; microtubule associated complex; nuclear envelope; nuclear membrane; perinuclear region of cytoplasm; stereocilium

Molecular Function: dynein intermediate chain binding; heparin binding; microtubule binding; phospholipase A2 activity; phospholipase binding; phosphoprotein binding; protein binding; protein homodimerization activity

Biological Process: acrosome formation; actin cytoskeleton organization; adult locomotory behavior; ameboidal cell migration; auditory receptor cell development; brain morphogenesis; cerebral cortex development; cerebral cortex neuron differentiation; cochlea development; corpus callosum morphogenesis; cortical microtubule organization and biogenesis; establishment of centrosome localization; establishment of mitotic spindle orientation; establishment of polarity of embryonic epithelium; G2/M transition of mitotic cell cycle; germ cell development; hippocampus development; layer formation in cerebral cortex; learning and/or memory; lipid catabolic process; maintenance of centrosome location; microtubule cytoskeleton organization; microtubule cytoskeleton organization involved in establishment of planar polarity; microtubule organizing center organization; microtubule-based process; negative regulation of JNK cascade; negative regulation of neuron projection development; neuroblast proliferation; neuromuscular process controlling balance; neuron migration; nuclear envelope disassembly; nuclear migration; platelet activating factor metabolic process; positive regulation of axon extension; positive regulation of cytokine and chemokine mediated signaling pathway; positive regulation of embryonic development; positive regulation of mitotic cell cycle; protein secretion; regulation of G2/M transition of mitotic cell cycle; regulation of GTPase activity; regulation of microtubule motor activity; retrograde axon cargo transport; sister chromatid cohesion; stem cell division; synaptic transmission; transmission of nerve impulse; vesicle transport along microtubule

Disease: Lissencephaly 1