sorbitol dehydrogenase

Summary
Gene Symbol
  • SORD
Organism
Homo sapiens (human)
External Links
NCBI Gene
6652
HGNC
11184
KEGG Gene ID
hsa:6652
PubChem
6652
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Flagellum
  • Membrane
  • Metal-binding
  • Mitochondrion
  • NAD
  • Neuropathy
  • Oxidoreductase
  • Phosphoprotein
  • Reference proteome
  • Zinc
Proteins
Displaying 1 entry
UniProt Protein Name
Q00796
  • (R,R)-butanediol dehydrogenase
  • L-iditol 2-dehydrogenase
  • Polyol dehydrogenase
  • Ribitol dehydrogenase
  • Xylitol dehydrogenase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000140263

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00008
Name
L-iditol 2-dehydrogenase [EC:1.1.1.14]
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 143 in total
DO ID Disease Name Source
DOID:0110243 cataract 46 juvenile-onset
DOID:0110245 cataract 38
DOID:0110246 cataract 26 multiple types
DOID:0110248 cataract 30
DOID:0110249 cataract 11 multiple types
DOID:0110250 cataract 16 multiple types
DOID:0110251 cataract 15 multiple types
DOID:0110252 cataract 37
DOID:0110253 cataract 14 multiple types
DOID:0110254 cataract 25
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001761 Pes cavus
HP:0002355 Difficulty walking
HP:0002495 Impaired vibratory sensation
HP:0002650 Scoliosis
HP:0003431 Decreased motor nerve conduction velocity
HP:0007078 Decreased amplitude of sensory action potentials
HP:0007328 Impaired pain sensation
HP:0008959 Distal upper limb muscle weakness
HP:0008994 Proximal muscle weakness in lower limbs
Displaying 1 entry
Disease ID Disease Name
OMIM:618912
  • neuronopathy, distal hereditary motor, autosomal recessive 8

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024