PHYH Antibody

1. 3 heterozygous variants: c.85C>T (p.Pro29Ser), c.135-2A>G, and c.768del63bp (p.Phe257Glnfs*16) were found in a family with Refsum's disease. PMID: 28681609
2. substrate specificity of PAHX is broader than expected, so Refsum disease might be characterized by an accumulation of not only phytanic acid but also other 3-alkyl-branched fatty acids PMID: 12923223
3. Ten novel PHYH mutations found in Refsum disease patients. PMID: 14974078
4. demonstrate that both unprocessed and processed forms are able to hydroxylate a range of CoA derivatives; site-directed mutagenesis was used to support proposals for the identity of the iron binding istes of PAHX PMID: 15930519
5. manner in which phytanoyl-CoA 2-hydroxylase (PAHX) binds to iron(II) and 2-oxoglutarate at its active site distinguishes it from that of the other human 2-oxoglutarate (2OG)-dependent oxygenase PMID: 16186124
6. In the absence of elevated phytanic acid concentrations, clinical neurologic abnormalities in heterozygous relatives of Refsum patients are not attributable to heterozygosity for PAHX mutations. PMID: 18612766

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HGNC: 8940

OMIM: 266500

KEGG: hsa:5264

STRING: 9606.ENSP00000263038

UniGene: Hs.498732