Phosphoglycerate Dehydrogenase

Alternative Names

  • PHGDH
  • 3-Phosphogylcerate Dehydrogenase
  • 3PGDH
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OMIM Number

606879

NCBI Gene ID

26227

Uniprot ID

O43175

Length

95,816 bases

No. of Exons

16

No. of isoforms

1

Protein Name

D-3-Phosphoglycerate Dehydrogenase

Molecular Mass

56651 Da

Amino Acid Count

533

Genomic Location

chr1:119,711,933-119,744,217

Gene Map Locus
1p12

Description

The PHGDH gene encodes an enzyme that is essential for the synthesis of the L-serine amino acid.  Using NAD+/NADH as a cofactor, PHGDH forms a homotetramer and catalyzes the first step in the serine biosynthesis pathway, the transition of 3-phosphoglycerate into 3-phosphohydroxypyruvate.  As serine is essential for protein synthesis and is a precursor to compounds such as sphingomyelin, glycine, and cysteine, PHGDH deficiency can have strong pathological consequences.

Mutations in the PHGDH gene result in Neu-Laxova Syndrome 1 (NLS1), a severe and usually fatal disorder characterized by ichthyosis, microcephaly, intra-uterine growth retardation, nervous system abnormalities, limb deformities, edema, and facial dysmorphia.  The gene is also associated with Phosphoglycerate Dehydrogenase Deficiency (PHGDHD), a less severe phenotype characterized by congenital microcephaly, psychomotor retardation, and seizures. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006623.3:c.1286G>TSaudi Arabia; United A...NC_000001.11:g.119742883G>TPathogenicLikely Pathogenic, PathogenicPhosphoglycerate Dehydrogenase DeficiencyNG_009188.1:g.36088G>T; NM_006623.3:c.1286G>T; NP_006614.2:p.Gly429Val1652276195916534
NM_006623.4:c.418G>ASaudi Arabiachr1:119727010PathogenicPathogenicNeu-Laxova Syndrome 1NG_009188.1:g.20215G>A; NM_006623.4:c.418G>A; NP_006614.2:p.Gly140Arg587777770139534
NM_006623.4:c.488G>ASaudi Arabiachr1:119727080PathogenicPathogenicNeu-Laxova Syndrome 1NG_009188.1:g.20285G>A; NM_006623.4:c.488G>A; NP_006614.2:p.Arg163Gln587777483139535
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