| Type | Description |
|---|---|
| Definition | phytanoyl-CoA 2-hydroxylase |
| Date | Results | Publications |
|---|---|---|
| 2017-08-26 12:43:00 | 3 heterozygous variants: c.85C>T (p.Pro29Ser), c.135-2A>G, and c.768del63bp (p.Phe257Glnfs*16) were found in a family with Refsum's disease. | 28681609 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-01-21 00:00:00 | 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. | 18612766 |
| 2010-01-21 00:00:00 | Ten novel PHYH mutations found in Refsum disease patients. | 14974078 |
| 2010-01-21 00:00:00 | 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 | 16186124 |
| Type | IDs |
|---|---|
| Synonymous | LN1, LNAP1, PAHX, PHYH1, RD |
| Gene |
UniProtKB-ID:
PAHX_HUMAN
UniprotKB:
O14832
UniParc:
UPI0000131215,
UPI00006093D9
EMBL:
AF242383,
AF242385,
AF242380,
AL138764,
AF023462,
AF242382,
AF242381,
AF242384,
AF112977,
AF242386,
BC029512,
AF242379
Ensembl:
ENSG00000107537
KO:
hsa:5264
|
| Nucleutide sequences |
EMBL-CDS:
AAB81834.1,
AAF74123.1,
AAD20602.1,
AAH29512.1
Ensembl_TRS:
ENST00000263038,
ENST00000396913
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000263038,
ENSP00000380121
RefSeq:
NP_001310013.1,
NP_006205.1,
NP_001032626.1,
NP_001310011.1,
NP_001310009.1,
NP_001310012.1
|
| Others |
UniRef100:
UniRef100_O14832
UniRef90:
UniRef90_O14832
UniRef50:
UniRef50_O14832
UniGene:
Hs.498732
CCDS:
CCDS7097.1,
CCDS41489.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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