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: LOC105378936

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs587777483 in PHGDH;LOC105378936 gene and NEU-LAXOVA SYNDROME 1 PMID 24836451 2014 Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.