Background information
PAFAH1B2, also known as PAFAHB, is a 229 amino acid cytoplasmic protein that belongs to the GDSL lipolytic enzyme family and the platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily. A ubiquitously expressed catalytic subunit of the cytosolic PAFAH1B heterotrimeric complex, PAFAH1B2 inactivates PAF by removing the acetyl group at the sn-2 position. Along with the beta subunit, PAFAH1B is made up of alpha and gamma subunits. The gene that encodes PAFAH1B2 consists of approximately 32,628 bases and maps to human chromosome 11q23.3. Chromosome 11 houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that map to chromosome 11.
