Description
Product Characteristics: PAFAH1B1, LIS1, platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45 kDa, MDCR, PAFAH, lissencephaly 1 protein, Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit, platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD), platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45 kDa), LIS2, MDS,
Target Information: 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]