PHGDH, Official Symbol PHGDHprovided by HGNC Official Full Name phosphoglycerate dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:8923 See related Ensembl:ENSG00000092621 MIM:606879; AllianceGenome:HGNC:8923 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NLS; PDG; PGD; NLS1; PGAD; PGDH; SERA; 3PGDH; 3-PGDH; PHGDHD; HEL-S-113 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. [provided by RefSeq, Aug 2011] Expression Broad expression in fat (RPKM 36.0), skin (RPKM 33.6) and 23 other tissues See more Orthologs mouse all