Gene Symbol | PAFAH1B1 |
Entrez Gene ID | 5048 |
Full Name | platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
Synonyms | LIS1,LIS2,MDCR,MDS,NudF,PAFAH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Lissencephaly 1, 607432 (3); Subcortical laminar heterotopia, 607432 (3) |