PHYH (NM_006214) Human Recombinant Protein

• Background:

  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]

• Synonyms:

  LN1; LNAP1; PAHX; PHYH1; RD

• Gene ID:

  5264

• UniProt:

  O14832

• Accession Number mRNA:

  NM_006214

• Chromosomal Location:

  10p13

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome

• Molecular Weight:

  35.4 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  PHYH

• Species:

  Human

• Protein ID:

  NP_006205

• Overview:

  Recombinant protein of human phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/5264

• Uniprot URL:

  https://www.uniprot.org/uniprot/O14832

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_006214

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_006205