PAFAH1B3, Official Symbol PAFAH1B3provided by HGNC Official Full Name platelet activating factor acetylhydrolase 1b catalytic subunit 3provided by HGNC Primary source HGNC:HGNC:8576 See related Ensembl:ENSG00000079462 MIM:603074; AllianceGenome:HGNC:8576 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 PAFAHG Summary This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in testis (RPKM 7.8), brain (RPKM 7.2) and 25 other tissues See more Orthologs mouse all