Aliases for PAFAH1B3 Gene
- Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 3 2 3 5
- Platelet-Activating Factor Acetylhydrolase 1b, Catalytic Subunit 3 (29kDa) 2 3
- Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Subunit 3 (29kDa) 2 3
- PAF Acetylhydrolase 29 KDa Subunit 3 4
- PAF-AH1b Alpha 1 Subunit 2 3
- PAF-AH 29 KDa Subunit 3 4
- PAF-AH Subunit Gamma 3 4
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 cognitive disability, 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) is a Protein Coding gene. Diseases associated with PAFAH1B3 include Miller-Dieker Lissencephaly Syndrome. Among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and Golgi-to-ER retrograde transport. Gene Ontology (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.