Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: PHYH (phytanoyl-CoA 2-hydroxylase) Homo sapiens
Analyze
Symbol: PHYH
Name: phytanoyl-CoA 2-hydroxylase
CRRD ID: 731796
Description: Exhibits L-ascorbic acid binding activity; ferrous iron binding activity; and phytanoyl-CoA dioxygenase activity. Involved in carboxylic acid metabolic process and isoprenoid metabolic process. Localizes to 9+0 non-motile cilium and peroxisome. Implicated in Refsum disease; Zellweger syndrome; orofacial cleft; and peroxisomal disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: LN1; LNAP1; PAHX; PHYH1; phytanic acid oxidase; phytanoil-CoA alpha hydroxylase; phytanoyl-CoA 2 oxoglutarate dioxygenase; phytanoyl-CoA alpha-hydroxylase; phytanoyl-CoA dioxygenase, peroxisomal; phytanoyl-coa hydroxylase (refsum disease); RD
Orthologs:
Mus musculus (house mouse) : Phyh (phytanoyl-CoA hydroxylase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Phyh (phytanoyl-CoA 2-hydroxylase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Phyh (phytanoyl-CoA 2-hydroxylase)
Pan paniscus (bonobo/pygmy chimpanzee) : PHYH (phytanoyl-CoA 2-hydroxylase)
Canis lupus familiaris (dog) : LOC478000 (phytanoyl-CoA hydroxylase-like)
Sus scrofa (pig) : PHYH (phytanoyl-CoA 2-hydroxylase)
Chlorocebus sabaeus (African green monkey) : PHYH (phytanoyl-CoA 2-hydroxylase)
Heterocephalus glaber (naked mole-rat) : Phyh (phytanoyl-CoA 2-hydroxylase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1013,277,796 - 13,302,412 (-)EnsemblGRCh38hg38GRCh38
GRCh381013,277,799 - 13,300,064 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371013,319,796 - 13,342,133 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361013,359,802 - 13,382,136 (-)NCBINCBI36hg18NCBI36
Build 341013,359,805 - 13,382,107NCBI
Celera1013,246,935 - 13,269,237 (-)NCBI
Cytogenetic Map10p13NCBI
HuRef1013,232,668 - 13,254,996 (-)NCBIHuRef
CHM1_11013,319,709 - 13,342,691 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PHYH
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731796
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.