This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PHYH-20-RE | 20 (40 μL) | 200 μL |  |
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| PHYH-20-OR | 20 (40 μL) | 200 μL |  |
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| PHYH-20-GO | 20 (40 μL) | 200 μL |  |
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| PHYH-20-GR | 20 (40 μL) | 200 μL |  |
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| PHYH-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Symbol : PHYH
Gene Name : Phytanoyl-CoA 2-hydroxylase
Chromosome : CHR 10: 133,001,29-132,777,95
Locus : 10p13
Alt. Genes : ZNF263
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