{"symbol":"PAFAH1B3","synonyms":["PAFAHG"],"name":"platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)","description":"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]","ncbiEntrezGeneId":5050,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5050","proteins":[{"symbol":"PA1B3_HUMAN","href":"/api/1.0/protein/PA1B3_HUMAN"}],"hgncRootFamilies":[]}