PAFAH1B3 Back

platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa

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NCBI Description of PAFAH1B3
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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PAFAH1B3 is highly significantly mutated in
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PAFAH1B3 is significantly mutated in
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PAFAH1B3 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PAFAH1B3