PAFAH2
Description
The PAFAH2 (platelet activating factor acetylhydrolase 2) is a protein-coding gene located on chromosome 1.
PAFAH2 (Platelet-activating factor acetylhydrolase 2, cytoplasmic) is an enzyme encoded by the PAFAH2 gene in humans. It is one of several PAF acetylhydrolases. PAFAH2 is a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). This lipase exhibits a broader substrate specificity than just platelet-activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, both of which are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme.
PAFAH2 is also known as HSD-PLA2.
Associated Diseases
- Pallister-Hall syndrome
- pediatric hepatocellular carcinoma
- neonatal hemochromatosis
- pentosuria
- nonpapillary renal cell carcinoma
- acute kidney failure
- pulmonary hypertension
- cancer
