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PAFAH1B1
Platelet-activating factor acetylhydrolase IB subunit alpha is an enzyme that in humans is encoded by the ''PAFAH1B1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5048 )〕 The protein is often referred to as Lis1 and 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 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 VLDLR receptor activated by reelin.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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