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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PAFAH1B3-20-RE | 20 (40 μL) | 200 μL |  |
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| PAFAH1B3-20-OR | 20 (40 μL) | 200 μL |  |
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| PAFAH1B3-20-GO | 20 (40 μL) | 200 μL |  |
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| PAFAH1B3-20-GR | 20 (40 μL) | 200 μL |  |
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| PAFAH1B3-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PAFAH1B3
Gene Name : Platelet activating factor acetylhydrolase 1b catalytic subunit 3
Chromosome : CHR 19: 423,027,99-422,970,32
Locus : 19q13.2
Alt. Genes : LINC01587
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