Mouse monoclonal antibody to human PAFAH alpha [2C12]: IgG

PAFAH alpha 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. 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. It is expressed ubiquitously in both the frontal and occipital areas of the brain. Defects in PAFAH alpha cause lissencephaly type 1 (LIS1) and of subcortical band heterotopia (SBH). Defects in PAFAH alpha are also a cause of Miller-Dieker lissencephaly syndrome (MLDS).