CNDP1
LOCUS ID84735
GENE_SYMBOLCNDP1
GENE NAMEcarnosine dipeptidase 1 (metallopeptidase M20 fami
SYNONYMNSCN1 CPGL2 HsT2308
CHROMOSOME18
HOMOLOGENE ID57178
SOURCEHUMAN
PMIDs24756973
GENE SUMMARY
This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]

OBSERVATION
1. Homozygosity for a 5-leucine repeat (5L-5L) in the carnosinase gene (CNDP1) has been associated with a reduced prevalence of diabetic nephropathy in cross-sectional studies in patients with type 2 diabetes, particularly in women.