Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol AKR1B1 contributors: mct - updated : 24-08-2011
HGNC name aldo-keto reductase family 1, member B1 (aldose reductase)
HGNC id 381
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in the endometrium, during the menstrual cycle during the secretory phase and in both epithelial and stromal cells
tumoral     --over  
over-expression in some types of hepatocellular carcinomas (HCCs) is (T3)receptor -dependent and might play a crucial role in the development of HCC
Susceptibility
  • not associated to susceptibility to diabete nephropathy
  • to diabetic retinopathy in type 2 diabetes
  • Variant & Polymorphism other
  • type-2 diabetics with the CC genotype at C(-106)T polymorphism were more susceptible for developing retinopathy as a result of chronic hyperglycemia than those with the CT or TT genotype
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    reproductiongenital 
    potential target for treatment of menstrual disorders
    miscelleaneousvascular 
    inhibition of AK1B1 may be a useful therapeutic approach in preventing vascular complications
    diabetemetabolic syndrom 
    inhibition of AKR1B1 in diabetics may protect against damage in the brain and retina following ischemic reperfusion injury.
    immunologyinfectious 
    inhibition of this enzyme may be useful to attenuate maladaptive host responses and to treat acute cardiovascular dysfunction associated with endotoxic shock
    ANIMAL & CELL MODELS
  • deletion of Akr1b1 leads to less severe brain and retinal ischemic injuries in the diabetic db/db mouse