AKR1B1
LOCUS ID231
GENE_SYMBOLAKR1B1
GENE NAMEaldo-keto reductase family 1, member B1 (aldose reductase)
SYNONYMNSAR, ADR, ALR2, ALDR1
CHROMOSOME7
HOMOLOGENE ID133743
microRNAsNANA
GENE SUMMARY
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. In the past years aldose reductase (AKR1B1; AR) is thought to be involved in the pathogenesis of secondary diabetic complications such as retinopathy, neuropathy, nephropathy and cataractogenesis. 2. The AR levels in the patients with nephropathy tended to give a higher value than those without it.21547010 , 10499880
Retinopathy1. It was suggested that the inhibition of AR in patients with early NIDDM might be beneficial in reducing the development of diabetic retinopathy . Thus, our results show that the -106CC genotype (-106C>T polymorphism) in the AR gene is related to the progression of diabetic retinopathy in Caucasian-Brazilians with type 2 diabetes. 3. These findings indicate that AR is responsible for the early events in the pathogenesis of diabetic retinopathy, leading to a cascade of retinal lesions, including blood-retinal barrier breakdown, loss of pericytes, neuro-retinal apoptosis, glial reactivation, and neovascularization. 4. Variations within the AKR1B1 gene are highly significantly associated with diabetic retinopathy development irrespective of ethnicity.12446366 , 16545977 , 19587357
Neuropathy1. The C-106T polymorphism of the ALR gene may contribute to an early development of neurophysiologic deterioration in type 2 diabetic patients.15277434