PAFAH1B1, Official Symbol PAFAH1B1provided by HGNC Official Full Name platelet activating factor acetylhydrolase 1b regulatory subunit 1provided by HGNC Primary source HGNC:HGNC:8574 See related Ensembl:ENSG00000007168 MIM:601545; AllianceGenome:HGNC:8574 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MDS; LIS1; LIS2; MDCR; NudF; PAFAH 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] Expression Ubiquitous expression in brain (RPKM 59.5), testis (RPKM 32.6) and 25 other tissues See more Orthologs mouse all