Name

PAFAH1B1 Gene

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]

pafah1b1 Gene Set

From 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 Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for PAFAH1B1 from the Pathway Commons Protein-Protein Interactions dataset.

PAFAH1B1 Gene Set

From 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 Set

From NURSA Protein Complexes

proteins in the BL894 (PAFAH1B1) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

PAFAH1B1 copy number variation Gene Set

From WikiPathways Pathways 2024

proteins participating in the PAFAH1B1 copy number variation pathway from the WikiPathways Pathways 2024 dataset.