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 7.1.0) Enables D-sorbitol dehydrogenase (acceptor) activity; D-xylulose reductase activity; and L-iditol 2-dehydrogenase activity. Involved in flagellated sperm motility; fructose biosynthetic process; and glucuronate catabolic process to xylulose 5-phosphate. 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; limb; liver; 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] |