PAFAH1B1
Platelet-activating factor acetylhydrolase IB subunit alpha or Lisencephaly protein-1 is an enzyme that in humans is encoded by the PAFAH1B1 gene. The protein plays an important role in regulating the motor protein dynein.
Function
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. 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.According to one study, PAFAH1B1 interacts with VLDL receptor activated by reelin.