Primary Identifier | MGI:1277989 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 108037 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glycine hydroxymethyltransferase activity. Involved in regulation of mitochondrial translation; regulation of oxidative phosphorylation; and tetrahydrofolate interconversion. Located in mitochondrial inner membrane. Is active in nucleus. Is expressed in several structures, including future brain; hepatic primordium; placenta; skeleton; and submandibular gland primordium. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities. Orthologous to human SHMT2 (serine hydroxymethyltransferase 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethlity after E13.5, decreased size, anemia and reduced MEF cellular respiration and proliferation. [provided by MGI curators] |