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MGP002277

Record overview

MGPD IDMGP002277
Gene ID5264
SpeciesHomo sapiens (Human)
Gene Namephytanoyl-CoA 2-hydroxylase
Gene Symbol PHYH
SynonymsRD; LN1; PAHX; LNAP1; PHYH1;
Alternate namesphytanoyl-CoA dioxygenase, peroxisomal; phytanic acid oxidase; phytanoil-CoA alpha hydroxylase; phytanoyl-CoA 2 oxoglutarate dioxygenase; phytanoyl-CoA alpha-hydroxylase;
Chromosome10
Map Location10p13
EC Number1.14.11.18
SummaryThis 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]
OrthologsView orthologs and multiple alignments for PHYH

Proteins

phytanoyl-CoA dioxygenase, peroxisomal isoform a precursor
Refseq ID:NP_006205
Protein GI:5453884
UniProt ID:O14832
mRNA ID:NM_006214
Length:338
RefSeq Status:
MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTV
MRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHIS
RNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENI
EKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL
 
transit_peptide: 1..30
note: PTS2 - peroxisomal targeting signal 2
calculated_mol_wt: 3121
peptide sequence: 
MEQLRAAARLQIVLGHLGRPSAGAVVAHPT

mat_peptide: 31..338
product: phytanoyl-CoA dioxygenase, peroxisomal isoform a
calculated_mol_wt: 35436
peptide sequence: 
SGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKEL
FRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVN
KMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARL
VKGERTNL
 
phytanoyl-CoA dioxygenase, peroxisomal isoform b
Refseq ID:NP_001032626
Protein GI:83281447
UniProt ID:O14832
mRNA ID:NM_001037537
Length:238
RefSeq Status:
MRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHIS
RNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENI
EKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL
 
transit_peptide: 1..30
note: PTS2 - peroxisomal targeting signal 2
calculated_mol_wt: 3121
peptide sequence: 
MEQLRAAARLQIVLGHLGRPSAGAVVAHPT

mat_peptide: 31..338
product: phytanoyl-CoA dioxygenase, peroxisomal isoform a
calculated_mol_wt: 35436
peptide sequence: 
SGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKEL
FRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVN
KMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARL
VKGERTNL
 
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