PDSS2

The official name of this gene is “prenyl (decaprenyl) diphosphate synthase, subunit 2.”

PDSS2 is the gene's official symbol. The PDSS2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

Genetics Home Reference provides information about Leigh syndrome, which is associated with changes in the PDSS2 gene.

UniProt provides the following information about the PDSS2 gene's known or predicted involvement in human disease.

Coenzyme Q10 deficiency, primary, 3 (COQ10D3)^[1]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PDSS2 gene.

• Coenzyme Q10 deficiency, primary, 3^[1]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	614652	COENZYME Q10 DEFICIENCY, PRIMARY, 3
	610564	PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2

Cytogenetic Location: 6q21

Molecular Location on chromosome 6: base pairs 107,473,760 to 107,780,778

The PDSS2 gene is located on the long (q) arm of chromosome 6 at position 21.

More precisely, the PDSS2 gene is located from base pair 107,473,760 to base pair 107,780,778 on chromosome 6.

See How do geneticists indicate the location of a gene? in the Handbook.

You and your healthcare professional may find the following resources about PDSS2 helpful.

• Genetic Testing Registry - Repository of genetic test information
  • GTR: Genetic tests for PDSS2

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• OMIM - Genetic disorder catalog
  • PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2
  • COENZYME Q10 DEFICIENCY, PRIMARY, 3
• Research Resources - Tools for researchers
  • Atlas of Genetics and Cytogenetics in Oncology and Haematology
  • Entrez Gene
  • GeneCards
  • HUGO Gene Nomenclature Committee
  • UniProt

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

ataxia ; atrophy ; autosomal ; autosomal recessive ; cardiomyopathy ; coenzyme Q ; coenzyme Q10 ; deficiency ; encephalopathy ; enzyme ; gene ; gene product ; protein ; Q10 ; recessive ; renal ; respiratory ; syndrome ; ubiquinone

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.