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PAFAH1B3
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
PAFAH1B3 is 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.
| Gene Name: | platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) |
| Synonyms: | PAFAH1B3, PAFAHG, PAFAH subunit gamma, PAF-AH 29 kDa subunit, PAF-AH subunit gamma, PAF-AH1b alpha 1 subunit |
| Target Sequences: | NM_002573 NP_002564.1 Q15102 |
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