| Primary Identifier | MGI:1918993 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 71743 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables dephospho-CoA kinase activity and pantetheine-phosphate adenylyltransferase activity. Involved in coenzyme A biosynthetic process. Is active in mitochondrial outer membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study neurodegeneration with brain iron accumulation 6. Human ortholog(s) of this gene implicated in mucopolysaccharidosis III; neurodegeneration with brain iron accumulation 6; and pontocerebellar hypoplasia type 12. Orthologous to human COASY (Coenzyme A synthase). PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit growth retardation after 8 weeks, impaired righting response, positive geotaxis, decreased brain weight, dystonia, increased brain iron, calcium, and magnesium levels, and premature death around P13. [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
