GO curators for mouse genes have assigned the following annotations to the gene product of Phgdh. (This text reflects annotations as of Wednesday, January 23, 2013.) Summary from NCBI RefSeq
[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]Summary text based on GO annotations supported by experimental evidence in mouse
Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Phgdh
participates in the following biological processes:
Kawakami Y et al. (2009) Impaired neurogenesis in embryonic spinal cord of Phgdh knockout mice, a serine deficiency disorder model. Neurosci Res, 63:184-93. (PubMed:19114063)