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 8.0.0) 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 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] |