Recombinant Human PHYH Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: PHYH-3396H
• Product Overview: PHYH MS Standard C13 and N15-labeled recombinant protein (NP_006205) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: 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.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 38.5 kDa
• AA Sequence: MEQLRAAARLQIVLGHLGRPSAGAV VAHPTSGTISSASFHPQQFQYTLDN NVLTLEQRKFYEENGFLVIKNLVPD ADIQRFRNEFEKICRKEVKPLGLTV MRDVTISKSEYAPSEKMITKVQDFQ EDKELFRYCTLPEILKYVECFTGPN IMAMHTMLINKPPDSGKKTSRHPLH QDLHYFPFRPSDLIVCAWTAMEHIS RNNGCLVVLPGTHKGSLKPHDYPKW EGGVNKMFHGIQDYEENKARVHLVM EKGDTVFFHPLLIHGSGQNKTQGFR KAISCHFASADCHYIDVKGTSQENI EKEVVGIAHKFFGAENSVNLKDIWM FRARLVKGERTNLTRTRPLEQKLIS EEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: PHYH phytanoyl-CoA 2-hydroxylase [ Homo sapiens (human) ]
• Official Symbol: PHYH
• Synonyms: PHYH; phytanoyl-CoA 2-hydroxylase; phytanoyl CoA hydroxylase, phytanoyl CoA hydroxylase (Refsum disease); phytanoyl-CoA dioxygenase, peroxisomal; PAHX; PHYH1; phytanoyl CoA dioxygenase; RD; Refsum disease; phytanic acid oxidase; phytanoil-CoA alpha hydroxylase; phytanoyl-CoA alpha-hydroxylase; phytanoyl-CoA 2 oxoglutarate dioxygenase; LN1; LNAP1
• Gene ID: 5264
• mRNA Refseq: NM_006214
• Protein Refseq: NP_006205
• MIM: 602026
• UniProt ID: O14832