PAFAH1B3 Human

The PAFAH1B3 gene is located on chromosome 19 and encodes a protein that is part of the platelet-activating factor acetylhydrolase isoform 1B complex. This complex consists of three subunits: the catalytic beta (PAFAH1B2) and gamma (PAFAH1B3) subunits, and the regulatory alpha (PAFAH1B1) subunit . The PAFAH1B3 protein itself is approximately 29 kDa in size .

PAFAH1B3 catalyzes the removal of an acetyl group from the glycerol backbone of PAF, converting it into an inactive form known as lyso-PAF . This reaction is essential for regulating the biological activity of PAF and preventing excessive inflammatory responses. The enzyme is involved in various physiological processes, including brain development, spermatogenesis, and the modulation of immune responses .

Mutations or dysregulation of the PAFAH1B3 gene have been associated with several disorders. For instance, a translocation involving this gene and the CDC-like kinase 2 gene on chromosome 1 has been linked to cognitive disabilities, ataxia, and brain atrophy . Additionally, recent studies have indicated that PAFAH1B3 plays a role in cancer progression, particularly in lung adenocarcinoma, where its overexpression is correlated with poor prognosis and increased tumor invasiveness .

Given its involvement in critical biological processes and disease states, PAFAH1B3 is a target of interest for therapeutic interventions. Research is ongoing to better understand its function and regulation, as well as to develop inhibitors that could potentially be used in treating conditions like cancer and inflammatory diseases .