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PAFAH1B3 Geneplatelet-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 cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] |
pafah1b3 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term pafah1b3 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
PAFAH1B3 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for PAFAH1B3 from the Pathway Commons Protein-Protein Interactions dataset. |
PAFAH1B3 Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the PAFAH1B3 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |