Primary Identifier | MGI:2183441 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 107272 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable O-phospho-L-serine:2-oxoglutarate aminotransferase activity; identical protein binding activity; and pyridoxal phosphate binding activity. Predicted to be involved in L-serine biosynthetic process. Predicted to act upstream of or within amino acid biosynthetic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Neu-Laxova syndrome 2 and PSAT deficiency. Orthologous to human PSAT1 (phosphoserine aminotransferase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit craniofacial defects, exencephaly and growth retardation. [provided by MGI curators] |