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

rs637868 in PHGDH gene and Alanine aminotransferase measurement PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

rs477992 in PHGDH gene and Amino acids measurement PMID 26068415 2015 Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.

rs12144094 in PHGDH gene and Body Height PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

rs666930 in PHGDH gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs894079 in PHGDH gene and Gingival Hemorrhage PMID 28459102 2016 The Novel ASIC2 Locus is Associated with Severe Gingival Inflammation.

rs477992 in PHGDH gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs636101 in PHGDH 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.

rs666930 in PHGDH gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs267606948 in PHGDH gene and NEU-LAXOVA SYNDROME 1 PMID 19235232 2009 Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

rs121907987 in PHGDH gene and Phosphoglycerate Dehydrogenase Deficiency PMID 11751922 2002 V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.

PMID 19235232 2009 Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

PMID 11055895 2000 Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

rs637868 in PHGDH gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

rs662602 in PHGDH gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs637868 in PHGDH gene and Serum Alanine Aminotransferase Measurement PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

rs477992 in PHGDH gene and Serum total cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs477992 in PHGDH gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.