| Tag | Content |
|---|---|
| Uniprot ID | O14832; A8MTS8; B1ALH5; |
| Entrez ID | 5264 |
| Genbank protein ID | AAF74123.1; AAD20602.1; AAH29512.1; AAB81834.1; |
| Genbank nucleotide ID | NM_001037537.1; NM_006214.3; NM_001323080.1; |
| Ensembl protein ID | ENSP00000263038; ENSP00000380121; |
| Ensembl nucleotide ID | ENSG00000107537 |
| Gene name | Phytanoyl-CoA dioxygenase, peroxisomal |
| Gene symbol | PHYH |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 27229527 |
| Functional description | Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (PubMed:9326939, PubMed:10744784, PubMed:12031666, PubMed:12923223). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAs (PubMed:10744784, PubMed:12923223). |
| Sequence | MEQLRAAARL QIVLGHLGRP SAGAVVAHPT SGTISSASFH PQQFQYTLDN NVLTLEQRKF 60 YEENGFLVIK NLVPDADIQR FRNEFEKICR KEVKPLGLTV MRDVTISKSE YAPSEKMITK 120 VQDFQEDKEL FRYCTLPEIL KYVECFTGPN IMAMHTMLIN KPPDSGKKTS RHPLHQDLHY 180 FPFRPSDLIV CAWTAMEHIS RNNGCLVVLP GTHKGSLKPH DYPKWEGGVN KMFHGIQDYE 240 ENKARVHLVM EKGDTVFFHP LLIHGSGQNK TQGFRKAISC HFASADCHYI DVKGTSQENI 300 EKEVVGIAHK FFGAENSVNL KDIWMFRARL VKGERTNL 338 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.