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PAFAH1B1 Geneplatelet-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] |
pafah1b1 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term pafah1b1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
PAFAH1B1 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for PAFAH1B1 from the Pathway Commons Protein-Protein Interactions dataset. |
PAFAH1B1 Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the PAFAH1B1 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |
BL894 (PAFAH1B1) Gene Setproteins in the BL894 (PAFAH1B1) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset. |
PAFAH1B1 copy number variation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the PAFAH1B1 copy number variation pathway from the WikiPathways Pathways 2024 dataset. |