| Primary Identifier | MGI:1934604 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 79464 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables lipoate synthase activity. Involved in protein lipoylation. Acts upstream of or within several processes, including lipoate biosynthetic process; neural tube closure; and response to lipopolysaccharide. Is active in mitochondrion. Is expressed in alimentary system; liver; metanephros; salivary gland; and urinary system. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human LIAS (lipoic acid synthetase). PHENOTYPE: Mice homozygous for a gene trap allele die before weaning. Embryos homozygous for a null allele become growth arrested and die at E7.5-E9.5. Embryos homozygous for an ENU allele survive to E12.5 showing a growth delay, an open neural tube, microcephaly, dilated hearts and lack of dorsal forebrain. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
