SORD Gene Summary [Human]
Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | SORD |
| Official Name | sorbitol dehydrogenase [Source:HGNC Symbol;Acc:HGNC:11184] |
| Ensembl ID | ENSG00000140263 |
| Bio databases IDs | |
| Aliases | sorbitol dehydrogenase |
| Synonyms | HEL-S-95n, HMNR8, RDH, SDH, SDH1, Sodh-1, Sorbitol dehydrogenase, SORD1, SORDD, XDH |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SORD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NAD or NADH binding
- L-threonine 3-dehydrogenase
- D-sorbitol dehydrogenase (acceptor)
- zinc ion binding
- L-iditol 2-dehydrogenase
- MDR
- Zinc-binding dehydrogenase
- D-xylulose reductase
- Alcohol dehydrogenase GroES-like domain
- enzyme
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- Alzheimer disease
- sorbitol dehydrogenase deficiency with peripheral neuropathy
- iron deficiency anemia
- hereditary disorder
- HER2 negative hormone receptor negative breast cancer
- neuromuscular disease
- primary central nervous system lymphoma
regulates
- erythritol
- erythrose
- D-glucose
- sorbitol
- D-fructose
role in cell
- motility
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- motile cilia
- Extracellular Space
- cellular membrane
- Mitochondria
- lipid droplets
- cytosol
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SORD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fructose biosynthetic process
- sperm motility
- sorbitol catabolic process
- L-xylitol metabolic process
- glucuronate catabolic process to xylulose 5-phosphate
- L-xylitol catabolic process
- glucose metabolic process
Cellular Component
Where in the cell the gene product is active
- motile cilium
- extracellular space
- mitochondrial membrane
- extracellular vesicular exosome
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- ribitol 2-dehydrogenase activity
- identical protein binding
- zinc ion binding
- NAD binding
- D-sorbitol dehydrogenase (acceptor) activity
- L-iditol 2-dehydrogenase activity
- (R,R)-butanediol dehydrogenase activity
- carbohydrate binding
- D-xylulose reductase activity