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Symbol report for PHYH

HGNC data for PHYH

Approved symbol
PHYH
Approved name

phytanoyl-CoA 2-hydroxylase

Locus type
gene with protein product
HGNC ID
HGNC:8940
Symbol status
Approved
Previous names
phytanoyl-CoA hydroxylase (Refsum disease)
phytanoyl-CoA hydroxylase
Alias symbols
PAHX
RD
PHYH1
Alias names
Refsum disease
phytanoyl-CoA dioxygenase
Chromosomal location
10p13
Gene resources for PHYH
Ensembl
ENSG00000107537 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
5264 Curated
UCSC
uc001imf.4
Alliance of Genome Resources
HGNC:8940
Nucleotide resources for PHYH
MANE Select
NM_006214.4
ENST00000263038.9
RefSeq
NM_001037537
NCBI sequence viewer
Protein resources for PHYH
UniProt/Swiss-Prot
O14832
InterProPDBeReactome
AlphaFold
AF-O14832-F1
Enzyme Commission
1.14.11.18 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for PHYH
Felis catus
PHYH VGNC:68832 VGNC
Macaca mulatta
PHYH VGNC:75983 VGNC
Mus musculus
Phyh MGI:891978 Curated
Pan troglodytes
PHYH VGNC:7248 VGNC
Rattus norvegicus
Phyh RGD:620317
Sus scrofa
PHYH VGNC:96483 VGNC
Clinical resources for PHYH
OMIM
602026
GenCC
HGNC:8940
MedlinePlus
Search via PHYH
DECIPHER
Search via PHYH
ClinGen
Search via HGNC:8940
Genetic Testing Registry
Search via NCBI Gene ID 5264
ClinVar
Search via NCBI Gene ID 5264
dbVar
Search via NCBI Gene ID 5264
Orphanet
117810
Other resources for PHYH
AmiGO
Search via O14832
QuickGO
Search via O14832
BioGPS
Search via NCBI Gene ID 5264
GeneCards
Search via HGNC:8940
Monarch
Search via HGNC:8940
WikiGenes
Search via NCBI Gene ID 5264
References for PHYH