Gene: PHGDH

Alternate names for this Gene: 3-PGDH|3PGDH|HEL-S-113|NLS|NLS1|PDG|PGAD|PGD|PGDH|PHGDHD|SERA

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p12

Description of this Gene: phosphoglycerate dehydrogenase

Type of Gene: protein-coding

Gene: LOC105378937

Alternate names for this Gene:

Gene Summary:

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rs478093 in PHGDH;LOC105378937 gene and Glycine measurement PMID 31070104 2019 Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.

PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

rs478093 in PHGDH;LOC105378937 gene and Insulin Sensitivity Measurement PMID 23378610 2013 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.

rs11804606 in PHGDH;LOC105378937 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.