Primary Identifier | MGI:1341155 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 104174 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including glycine binding activity; glycine dehydrogenase (decarboxylating) activity; and vitamin B6 binding activity. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in mitochondrion. Is expressed in several structures, including central nervous system; integumental system; limb; sensory organ; and urinary system. Used to study glycine encephalopathy. Human ortholog(s) of this gene implicated in glycine encephalopathy and glycine encephalopathy 1. Orthologous to human GLDC (glycine decarboxylase). PHENOTYPE: Hypomorphic mutants show a developmental delay, hyperglycinemia, altered folate profiles, neural tube defects and postnatal lethality, while survivors show hydrocephaly and premature death. Homozygotes for an ENU allele show omphalocele and severe cardiovascular, craniofacial, renal and eye defects. [provided by MGI curators] |