PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the
lissencephaly associated with
Miller–Dieker syndrome.
PAFAH1B1 encodes the non-catalytic alpha subunit of the intracellular Ib isoform of
platelet-activating factor acetylhydrolase, 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. ==Genomics==