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PHGDH

PHGDH

Reviewed May 2014

What is the official name of the PHGDH gene?

The official name of this gene is “phosphoglycerate dehydrogenase.”

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

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

What is the normal function of the PHGDH gene?

The PHGDH gene provides instructions for making the parts (subunits) that make up the phosphoglycerate dehydrogenase enzyme. Four PHGDH subunits combine to form the enzyme. This enzyme is involved in the production (synthesis) of the protein building block (amino acid) serine. Specifically, the enzyme converts a substance called 3-phosphoglycerate to 3-phosphohydroxypyruvate in the first step in serine production. Serine is necessary for the development and function of the brain and spinal cord (central nervous system). Serine is a part of chemical messengers called neurotransmitters that transmit signals in the nervous system. Proteins that form cell membranes and the fatty layer of insulation (myelin) that surrounds many nerves also contain serine.

Serine can be obtained from the diet, but brain cells must produce their own serine because dietary serine cannot cross the protective barrier that allows only certain substances to pass between blood vessels and the brain (the blood-brain barrier).

How are changes in the PHGDH gene related to health conditions?

phosphoglycerate dehydrogenase deficiency - caused by mutations in the PHGDH gene

At least eight mutations in the PHGDH gene have been found to cause phosphoglycerate dehydrogenase deficiency. This condition is characterized by an unusually small head size (microcephaly), severe developmental delay, and recurrent seizures that are difficult to treat (intractable epilepsy). Most of the mutations that cause this condition change single amino acids in the phosphoglycerate dehydrogenase enzyme. The mutations result in the production of an enzyme with decreased function. As a result, less 3-phosphoglycerate is converted into 3-phosphohydroxypyruvate than normal and serine production is stalled at the first step. The lack of serine likely prevents the production of proteins and neurotransmitters in the brain and impairs the formation of normal cells and myelin. These disruptions in normal brain development lead to microcephaly, severe developmental delay, and the other signs and symptoms of phosphoglycerate dehydrogenase deficiency.

Where is the PHGDH gene located?

Cytogenetic Location: 1p12

Molecular Location on chromosome 1: base pairs 119,711,736 to 119,744,225

The PHGDH gene is located on the short (p) arm of chromosome 1 at position 12.

The PHGDH gene is located on the short (p) arm of chromosome 1 at position 12.

More precisely, the PHGDH gene is located from base pair 119,711,736 to base pair 119,744,225 on chromosome 1.

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

Where can I find additional information about PHGDH?

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

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

What other names do people use for the PHGDH gene or gene products?

  • 3PGDH
  • 3-PGDH
  • 3-phosphoglycerate dehydrogenase
  • D-3-phosphoglycerate dehydrogenase
  • epididymis secretory protein Li 113
  • HEL-S-113
  • PDG
  • PGAD
  • PGD
  • PGDH
  • SERA

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PHGDH?

acids ; amino acid ; blood-brain barrier ; cell ; central nervous system ; deficiency ; dehydrogenase ; developmental delay ; enzyme ; epididymis ; epilepsy ; gene ; microcephaly ; nervous system ; neurotransmitters ; protein ; serine ; synthesis

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

See also Understanding Medical Terminology.

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: May 2014
Published: June 29, 2015