PAFAH1B1

Platelet-activating factor acetylhydrolase IB subunit alpha is an is_associated_with::enzyme that in humans is encoded by the PAFAH1B1 is_associated_with::gene. The protein is often referred to as Lis1 and plays an important role in regulating the motor protein is_associated_with::Dynein.

Function
PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the is_associated_with::lissencephaly associated with is_associated_with::Miller-Dieker syndrome. PAFAH1B1 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.

According to one study, PAFAH1B1 interacts with is_associated_with::VLDLR receptor activated by is_associated_with::reelin.

Genomics
The gene is located at chromosome 17p13.3 on the Watson (plus) strand. The gene is 91,953 bases in length and encodes a protein of 410 amino acids (predicted molecular weight 46.638 kiloDaltons).

Interactions
PAFAH1B1 has been shown to interact with is_associated_with::DYNC1H1, is_associated_with::CLIP1, is_associated_with::NDEL1, is_associated_with::NDE1,  is_associated_with::PAFAH1B3, is_associated_with::PAFAH1B2, is_associated_with::NUDC, is_associated_with::TUBA1A and is_associated_with::Doublecortin.