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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CNDP1
carnosine dipeptidase 1
Chromosome 18 · 18q22.3
NCBI Gene: 84735Ensembl: ENSG00000150656.16HGNC: HGNC:20675UniProt: Q96KN2
60PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
aminopeptidase activitycarboxypeptidase activityproteolysisregulation of protein metabolic processneurodegenerative diseaseresponse to antihypertensive drugmultiple sclerosishepatocellular carcinoma
✦AI Summary

CNDP1 encodes serum carnosinase, a metallodipeptidase that catalyzes hydrolysis of Xaa-His dipeptides, with highest activity toward carnosine (β-alanyl-L-histidine) and anserine 1. The enzyme is primarily localized to the cytosol and serum 2. CNDP1 function is critical in carnosine metabolism, and genetic variants in the CNDP1 gene—particularly a 5-leucine repeat polymorphism (D18S880)—influence carnosinase activity and plasma carnosine levels 3. Reduced carnosinase activity allows carnosine accumulation, which provides cytoprotection through antioxidant, anti-inflammatory, anti-glycation, and reactive oxygen species scavenging properties 1. CNDP1 polymorphisms are associated with diabetic nephropathy susceptibility in type 2 diabetes patients, with homozygosity for the 5-leucine variant reducing nephropathy risk 4. However, the 5-leucine genotype shows sex-specific effects on cardiovascular mortality, conferring increased risk in women but not men 5. CNDP1 variants do not significantly influence longevity or coronary heart disease incidence in the general population 2. Rare loss-of-function CNDP1 variants cause carnosinaemia, an autosomal recessive trait of uncertain clinical significance 2. Lower serum CNDP1 concentrations correlate with impaired renal function in diabetic patients 3, highlighting its role in kidney disease pathogenesis.

Sources cited
1
CNDP1 encodes carnosinase that degrades carnosine; carnosine has anti-inflammatory, antioxidant, anti-glycation and reactive carbonyl quenching properties
PMID: 30914013
2
CNDP1 encodes serum carnosinase; 5-leucine variant protects diabetes patients against nephropathy; rare frameshift deletion causes carnosinaemia
PMID: 16965804
3
CNDP1 (CTG)5 homozygous patients with diabetic nephropathy have significantly lower CNDP1 concentrations and activity; lower concentrations correlate with impaired renal function
PMID: 30610469
4
CNDP1 variants (rs2346061 and haplotypes) associated with increased risk of diabetic nephropathy in type 2 diabetes
PMID: 21573905
5
5-leucine repeat (5L-5L) genotype shows sex-specific association with cardiovascular mortality: protective in men, increased risk in women with type 2 diabetes
PMID: 24756973
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
response to antihypertensive drugOpen Targets
0.28Weak
multiple sclerosisOpen Targets
0.24Weak
hepatocellular carcinomaOpen Targets
0.11Weak
liver dysplastic noduleOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
diabetic nephropathyOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
Miyoshi myopathyOpen Targets
0.04Suggestive
myopiaOpen Targets
0.04Suggestive
kidney diseaseOpen Targets
0.04Suggestive
chronic kidney diseaseOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
Acute hepatic failureOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
ependymomaOpen Targets
0.03Suggestive
Retinal hemorrhageOpen Targets
0.03Suggestive
HyperglycemiaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PM20D2Shared pathway100%CARNMT1Protein interaction94%GADL1Protein interaction92%ALDH3A1Protein interaction92%ALDH3B1Protein interaction92%ALDH3B2Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Liver
46%
Bone Marrow
1%
Ovary
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CNDP1PM20D2CARNMT1GADL1ALDH3A1ALDH3B1ALDH3B2
PROTEIN STRUCTURE
Preparing viewer…
PDB3DLJ · 2.26 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.56–0.94]
RankingsWhere CNDP1 stands among ~20K protein-coding genes
  • #7,642of 20,598
    Most Researched60
  • #8,803of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedCNDP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Carnosine and Diabetic Nephropathy.
PMID: 30914013
Curr Med Chem · 2020
1.00
2
Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease.
PMID: 16965804
Mech Ageing Dev · 2006
0.90
3
Sex specific association between carnosinase gene CNDP1 and cardiovascular mortality in patients with type 2 diabetes (ZODIAC-22).
PMID: 24756973
J Nephrol · 2015
0.80
4
Is carnosinase 1 gene (CNDP1) polymorphism associated with chronic kidney disease progression in children and young adults? results of a family-based study.
PMID: 20851293
Arch Med Res · 2010
0.70
5
Common variants in CNDP1 and CNDP2, and risk of nephropathy in type 2 diabetes.
PMID: 21573905
Diabetologia · 2011
0.60