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This 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]
PHYH (Phytanoyl-CoA 2-Hydroxylase) is a Protein Coding gene. Diseases associated with PHYH include Refsum Disease, Classic and Retinitis Pigmentosa. Among its related pathways are Peroxisomal lipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity and cofactor binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0005515 | protein binding | IPI | 9326939 |
GO:0008198 | ferrous iron binding | IDA | 9326939 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0031406 | carboxylic acid binding | IDA | 16186124 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005777 | peroxisome | IEA,IDA | 9326939 |
GO:0005782 | peroxisomal matrix | TAS | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peroxisomal lipid metabolism | ||
2 | Metabolism |
.40
|
|
3 | Peroxisome |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001561 | fatty acid alpha-oxidation | TAS | -- |
GO:0006103 | 2-oxoglutarate metabolic process | IDA | 16186124 |
GO:0006625 | protein targeting to peroxisome | TAS | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006720 | isoprenoid metabolic process | IDA | 11555634 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Vitamin C | Approved | Nutra | Target, cofactor | 748,748 | ||
Iron | Approved, Experimental | Pharma | 1560 | |||
Antihemophilic factor, human recombinant | Approved, Investigational | Pharma | Target, antagonist | 0 | ||
Lonoctocog alfa | Approved, Investigational | Pharma | Target, antagonist | 0 | ||
Moroctocog alfa | Approved | Pharma | Target, antagonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2-hydroxyphytanoyl-CoA |
|
172787-73-4 | ||||
Phytanoyl-CoA |
|
146622-45-9 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PHYH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PHYH 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | LOC478000 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Phyh 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Phyh 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PHYH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PHYH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PHYH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | phyh 30 |
|
||
Str.15015 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.17548 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | phyh 30 31 |
|
OneToMany | |
PHYH (2 of 2) 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_ZK550.6 30 |
|
||
ZK550.6 31 |
|
OneToMany | |||
ZK550.5 31 32 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4002 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
722686 | Likely Benign: not provided | 13,294,452(-) | G/A | SYNONYMOUS_VARIANT | |
723196 | Likely Benign: not provided | 13,278,363(-) | A/G | INTRON_VARIANT | |
726787 | Likely Benign: not provided | 13,281,066(-) | G/A | SYNONYMOUS_VARIANT | |
730693 | Likely Benign: not provided | 13,294,482(-) | C/T | SYNONYMOUS_VARIANT | |
744155 | Likely Benign: not provided | 13,298,180(-) | T/G | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
refsum disease, classic |
|
|
retinitis pigmentosa |
|
|
inherited retinal disorder |
|
|
fundus dystrophy |
|
|
rhizomelic chondrodysplasia punctata |
|