InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDSS2

Summary

InnateDB Protein

IDBP-94920.6

Last Modified

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

Gene Symbol

PDSS2

Protein Name

prenyl (decaprenyl) diphosphate synthase, subunit 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000358033

InnateDB Gene

IDBG-94918 (PDSS2)

Protein Structure

UniProt Annotation

Function

Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. {ECO:0000269PubMed:16262699}.

Subcellular Localization

Mitochondrion {ECO:0000305}.

Disease Associations

Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652]: A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269PubMed:17186472}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000010	trans-hexaprenyltranstransferase activity
GO:0046982	protein heterodimerization activity
GO:0050347	trans-octaprenyltranstransferase activity

Biological Process

GO:0006744	ubiquinone biosynthetic process
GO:0008299	isoprenoid biosynthetic process
GO:0044281	small molecule metabolic process
GO:0050878	regulation of body fluid levels
GO:0051290	protein heterotetramerization