| Entrez gene ID | | 5050 |
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| Official gene symbol | | PAFAH1B3 |
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| Full name | | platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) |
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| Aliases | | ,FLJ44990,PAFAHG, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 19 Locus: 19q13.1 |
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| Gene position | | 42806952 - 42801185 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 5768 bp |
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| Gene sequence |
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| OMIM ID | | 603074 |
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