Aliases for PAFAH1B3 Gene
External Ids for PAFAH1B3 Gene
Previous GeneCards Identifiers for PAFAH1B3 Gene
This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
GeneCards Summary for PAFAH1B3 Gene
PAFAH1B3 (Platelet-Activating Factor Acetylhydrolase 1b, Catalytic Subunit 3 (29kDa)) is a Protein Coding gene. Diseases associated with PAFAH1B3 include lissencephaly. Among its related pathways are Metabolism and Acyl chain remodelling of PC. GO annotations related to this gene include identical protein binding and hydrolase activity. An important paralog of this gene is PAFAH1B2.
UniProtKB/Swiss-Prot for PAFAH1B3 Gene
Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain