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Warehouse
2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
Telephone Numbers
Tel: +1 (206) 374-1102
Fax: +1 (206) 577-4565
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Additional Contact Details
order histories, retained contact details for faster checkout, review submissions, and special promotions.
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RD / PHYH
phytanoyl-CoA 2-hydroxylase
RD / PHYH 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.
| Gene Name: | phytanoyl-CoA 2-hydroxylase |
| Synonyms: | PHYH, LN1, LNAP1, PHYH1, Phytanoyl-CoA 2-hydroxylase, Phytanoyl-CoA hydroxylase, RD, PAHX, Phytanic acid oxidase |
| Target Sequences: | NM_006214 NP_006205.1 O14832 |
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