| Dataset | GeneRIF Biological Term Annotations |
| Category | structural or functional annotations |
| Type | biological term |
| Description | platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)|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 mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] (NCBI Entrez Gene Database, 5050) |
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3 genes co-occuring with the biological term pafah1b3 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.