InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHYH

Summary

InnateDB Protein

IDBP-54889.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PHYH

Protein Name

phytanoyl-CoA 2-hydroxylase

Synonyms

LN1; LNAP1; PAHX; PHYH1; RD;

Species

Homo sapiens

Ensembl Protein

ENSP00000263038

InnateDB Gene

IDBG-54885 (PHYH)

Protein Structure

UniProt Annotation

Function

Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.

Subcellular Localization

Peroxisome.

Disease Associations

Refsum disease (RD) [MIM:266500]: A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment. {ECO:0000269PubMed:10709665, ECO:0000269PubMed:10767344, ECO:0000269PubMed:9326939, ECO:0000269PubMed:9326940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0005515	protein binding
GO:0009055	electron carrier activity
GO:0031418	L-ascorbic acid binding
GO:0046872	metal ion binding
GO:0048037	cofactor binding
GO:0048244	phytanoyl-CoA dioxygenase activity

Biological Process

GO:0001561	fatty acid alpha-oxidation
GO:0006720	isoprenoid metabolic process
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0097089	methyl-branched fatty acid metabolic process