| Primary Identifier | MGI:98266 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 20322 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables D-sorbitol dehydrogenase (acceptor) activity; D-xylulose reductase activity; and L-iditol 2-dehydrogenase (NAD+) activity. Involved in D-glucuronate catabolic process to D-xylulose 5-phosphate; flagellated sperm motility; and fructose biosynthetic process. Acts upstream of or within sorbitol metabolic process. Located in mitochondrion and motile cilium. Is active in cytosol. Is expressed in several structures, including alimentary system; early embryo; limb; metanephros; and nervous system. Used to study cataract. Human ortholog(s) of this gene implicated in autosomal recessive distal hereditary motor neuronopathy 8. Orthologous to human SORD (sorbitol dehydrogenase). PHENOTYPE: Mice homozygous for a functional null allele found in strain C57BL/LiA exhibit no obvious abnormalities in the kidney or other physiological systems. An additional isoelectric focusing variant is found in Peru stocks and has about 25% of the activity of that in most inbred strains. Mice homozygous for a null allele exhibit impaired glucose tolerance. [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
