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MGP004825

Record overview

MGPD IDMGP004825
Gene ID26227
SpeciesHomo sapiens (Human)
Gene Namephosphoglycerate dehydrogenase
Gene Symbol PHGDH
SynonymsNLS; PDG; PGD; NLS1; PGAD; PGDH; SERA; 3PGDH; 3-PGDH; PHGDHD; HEL-S-113;
Alternate namesD-3-phosphoglycerate dehydrogenase; 3-phosphoglycerate dehydrogenase; epididymis secretory protein Li 113;
Chromosome1
Map Location1p12
EC Number1.1.1.95;
SummaryThis 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]
OrthologsView orthologs and multiple alignments for PHGDH

Proteins

D-3-phosphoglycerate dehydrogenase
Refseq ID:NP_006614
Protein GI:23308577
UniProt ID:O43175
mRNA ID:NM_006623
Length:533
RefSeq Status:
MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPN
GNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLC
DFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIA
VQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMRAWAGSPKGTIQVITQGTSLKNAGNCLSPAVIVGLLKEASKQADVNLVNAKLLVKEA
GLNVTTSHSPAAPGEQGFGECLLAVALAGAPYQAVGLVQGTTPVLQGLNGAVFRPEVPLRRDLPLLLFRTQTSDPAMLPTMIGLLAEAGVRLLSYQTSLV
SDGETWHVMGISSLLPSLEAWKQHVTEAFQFHF
 
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