This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PAFAH1B1-20-RE | 20 (40 μL) | 200 μL |  |
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| PAFAH1B1-20-OR | 20 (40 μL) | 200 μL |  |
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| PAFAH1B1-20-GO | 20 (40 μL) | 200 μL |  |
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| PAFAH1B1-20-GR | 20 (40 μL) | 200 μL |  |
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| PAFAH1B1-20-AQ | 20 (40 μL) | 200 μL |  |
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This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
Gene Symbol : PAFAH1B1
Gene Name : Platelet activating factor acetylhydrolase 1b regulatory subunit 1
Chromosome : CHR 17: 259,320,9-268,561,6
Locus : 17p13.3
Alt. Genes : TRAP1
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