Description
Product Characteristics:
The survival and development of central neurons require the supply of trophic factors by glial cells. The trophic actions of glial cells on Purkinje neurons are mediated by L-serine and glycine, which are glia-derived trophic factors synthesized by 3PGDH (1). 3PGDH protein is 544 amino acids in length. Two distinct mRNA transcripts that encode for 3PGDH protein in normal human tissues are dominant 2.1 kb mRNA, which is highly expressed in prostate, testis, ovary, brain, liver, kidney, and pancreas, and weakly expressed in thymus, colon, and heart, and 710 bp mRNA, which is highly expressed in heart and skeletal muscle (2). 3PGDH is regulated at the transcriptional level depending on tissue specificity and cellular proliferative status (2). 3PGDH protein is also highly expressed in adult and fetal brain tissues (3). 3PGDH protein plays an important role in the metabolism, development, and function of the central nervous system (3) and its deficiency is a treatable congential error (4-5) that impairs L-serine biosynthesis which is characterized by congenital microcephaly, psychomotor retardation, and seizures (3).
Subcellular location: Cytoplasm, Secreted, Extracellular matrix
Synonyms: NLS, PDG, PGD, NLS1, PGAD, PGDH, SERA, 3PGDH, 3-PGDH, PHGDHD, HEL-S-113, D-3-phosphoglycerate dehydrogenase, PHGDH, PGDH3
Target Information: 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]