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FLASH GENE

Symbol

CNDP1

contributors: mct - updated : 13-07-2010

HGNC name	carnosine dipeptidase 1 (metallopeptidase M20 family)
HGNC id	20675

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to diabetic nephropathy, may at least be mediated by altered glucose metabolism in type 2 diabetic patients (Sauerhöfer 2007)

Variant & Polymorphism repeat	trinucleotide repeat in exon 2, coding for a leucine repeat in the leader peptide of the carnosinase-1 precursor, was associated with diabetic nephropathy
	diabetic patients with the Mannheim allele (5 Leucines) are less susceptible to nephropathy (Janssen 2005)

Candidate gene	deficiency of CNDP1 may cause homocarcinosis
	association between the CNDP1 gene and diabetic nephropathy is ex specific (Mooyaart 2010)
Marker
Therapy target	CNDP1 secretion is significantly higher in cells expressing variants with more than 5 leucines in the signal peptide, it might explain why patients with homozygous 5L allele have low serum carnosinase activity and are protected against diabetic nephropathy (Riedl 2007)

ANIMAL & CELL MODELS