| Full gene name: | phosphoglycerate dehydrogenase |
|---|---|
| Entrez Gene ID: | 26227 |
| Location: | 1p12 |
| Synonyms: | PGD, 3-PGDH, PGAD, PGDH, SERA, PDG, 3PGDH |
| Type: | protein-coding |
SNPs given by the user that are near or inside this gene:
| SNP | Distance (bp) | Direction |
|---|---|---|
| rs10923931 | 231110 | downstream |
This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]
| OMIM ID: | `OMIM ID 606879 `_ |
|---|
Allelic Variants (Selected Examples)
.0001 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
In 5 patients from 3 different families (2 Turkish and 1 European), Klomp et al. (2000) found that PHGDH deficiency (601815) was related to a homozygous 1468G-A transition predicted to cause a val490-to-met amino acid substitution in the protein.
.0002 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
In a girl whose parents were a consanguineous Moroccan couple, reported by Pineda et al. (2000) as phosphoglycerate dehydrogenase deficiency (601815) in a case of West syndrome, Klomp et al. (2000) found a homozygous mutation, 1273G-A (val425 to met), in the PHGDH gene.
.0003 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
In a Dutch boy with phosphoglycerate dehydrogenase deficiency (601815), Tabatabaie et al. (2009) identified compound heterozygosity for a 1-bp deletion (712delG) in exon 7 and a 403C-T transition in exon 4 of the PHGDH gene, the former causing a frameshift and premature termination codon and the latter resulting in an arg135-to-trp (R135W; 606879.0004) substitution. Analysis of enzyme kinetics in patient-derived fibroblasts showed a markedly decreased V(max). Transfection studies in HEK293 cells with the deletion mutant resulted in undetectable expression of 3-PGDH protein, whereas overexpression of the R135W mutant resulted in a moderate decrease of V(max) without affecting K(m). Molecular modeling of the R135W mutation onto the partial crystal structure of 3-PGDH predicted that the mutation would affect substrate and cofactor binding.
.0004 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
See 606879.0003 and Tabatabaie et al. (2009).
.0005 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
In a Dutch brother and sister with phosphoglycerate dehydrogenase deficiency (601815), born of consanguineous parents, Tabatabaie et al. (2009) identified homozygosity for a 1129G-A transition in exon 10 of the PHGDH gene, resulting in a gly377-to-ser (G377S) substitution. Analysis of enzyme kinetics in patient-derived fibroblasts showed a markedly decreased V(max); transfection studies in HEK293 cells with overexpression of the G377S mutant resulted in a moderate decrease of V(max) without affecting K(m).
.0006 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
In a Turkish boy with phosphoglycerate dehydrogenase deficiency (601815), Tabatabaie et al. (2009) identified homozygosity for a 781G-A transition in exon 7 of the PHGDH gene, resulting in a val261-to-met (V261M) substitution. Analysis of enzyme kinetics in patient-derived fibroblasts showed a significant but incomplete reduction in V(max), whereas transfection studies in HEK293 cells with overexpression of the V261M mutant displayed a 4-fold increase in K(m). Molecular modeling of the V261M mutation onto the partial crystal structure of 3-PGDH predicted that the mutation would affect substrate and cofactor binding.
Recent articles:
Top Pubmed articles linked to gene PHGDH matching any search term: