QuickView for NLS (gene)

Gene Symbol:

PHGDH Homo sapiens

Full name:

phosphoglycerate dehydrogenase

Synonyms:

3-PGDH, 3PGDH, HEL-S-113, NLS, NLS1, PDG, PGAD, PGD, PGDH, PHGDHD, SERA, D-3-phosphoglycerate dehydrogenase, 2-oxoglutarate reductase, 3-phosphoglycerate dehydrogenase, epididymis secretory protein Li 113, malate dehydrogenase

Genomic Location:

Chr 1: 120056033-120088361

Description:

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 retar...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Bos taurus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  GGGAGGRR_MAZ_Q6 ,  PAX2_02

Cytogenetic Map:

1p12

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