Phytanoyl-CoA 2-Hydroxylase Proteine (PHYH)

Bezeichnung:
Phytanoyl-CoA 2-Hydroxylase Proteine (PHYH)
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Synonyme:
AI256161, AI265699, LN1, Lnap1, PAHX, PHYH1, RD, zgc:110203
alle Proteine anzeigen Gen GeneID UniProt
PHYH 5264 O14832
PHYH 114209 P57093
PHYH 16922 O35386

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Human Phytanoyl-CoA 2-Hydroxylase (PHYH) Interaktionspartner

  1. 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

  2. Ten novel PHYH mutations found in Refsum disease patients.

  3. 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

  4. 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

  5. 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.

Phytanoyl-CoA 2-Hydroxylase (PHYH) Protein Überblick

Protein Überblick

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.

Alternative names and synonyms associated with Phytanoyl-CoA 2-Hydroxylase (PHYH)

  • phytanoyl-CoA 2-hydroxylase (PHYH)
  • phytanoyl-CoA 2-hydroxylase (phyh)
  • phytanoyl-CoA 2-hydroxylase (Phyh)
  • phytanoyl-CoA hydroxylase (Phyh)
  • AI256161 Protein
  • AI265699 Protein
  • LN1 Protein
  • Lnap1 Protein
  • PAHX Protein
  • PHYH1 Protein
  • RD Protein
  • zgc:110203 Protein

Bezeichner auf Proteinebene für PHYH

phytanoyl-CoA hydroxylase (Refsum disease) , phytanoyl-CoA 2-hydroxylase , phytanoyl-CoA dioxygenase, peroxisomal , phytanoyl-CoA hydroxylase , phytanic acid oxidase , phytanoil-CoA alpha hydroxylase , phytanoyl-CoA 2 oxoglutarate dioxygenase , phytanoyl-CoA alpha-hydroxylase , lupus nephritis-associated peptide 1

GENE ID SPEZIES
426601 Gallus gallus
450310 Pan troglodytes
478001 Canis lupus familiaris
550521 Danio rerio
695915 Macaca mulatta
100134962 Sus scrofa
100379998 Xenopus (Silurana) tropicalis
100462930 Papio anubis
5264 Homo sapiens
114209 Rattus norvegicus
281400 Bos taurus
16922 Mus musculus
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