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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
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP
mono polymer homomer , dimer
HOMOLOGY
interspecies homolog to murine Cndp1 (81.7pc)
homolog to rattus Cndp1 (82.5pc)
Homologene
FAMILY
  • M20 metalloprotease family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • potential neuroprotective and neurotransmitter functions, degrading carnosine, homocarnosine and other related peptides (Teufel 2003)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homodimeric peptidase
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • binding two Zn2+ ions per subunit
    • protein
    cell & other
    REGULATION
    inhibited by the metal chelator phenantrolin
    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