| Dataset | GeneRIF Biological Term Annotations |
| Category | structural or functional annotations |
| Type | biological term |
| Description | platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)|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] (NCBI Entrez Gene Database, 5048) |
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3 genes co-occuring with the biological term pafah1b1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
