CNDP1 explained

Beta-Ala-His dipeptidase is an enzyme that in humans is encoded by the CNDP1 gene.^{[1] [2]}

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.

The metabolic disorder Carnosinemia may be caused by mutations in this gene.

Further reading

• Lenney JF, Peppers SC, Kucera CM, Sjaastad O . Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine . Clin. Chim. Acta . 132 . 2 . 157–65 . 1983 . 6616870 . 10.1016/0009-8981(83)90243-7 .
• Lenney JF, George RP, Weiss AM . Human serum carnosinase: characterization, distinction from cellular carnosinase, and activation by cadmium . Clin. Chim. Acta . 123 . 3 . 221–31 . 1982 . 7116644 . 10.1016/0009-8981(82)90166-8 . etal.
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Harrington JJ, Sherf B, Rundlett S . Creation of genome-wide protein expression libraries using random activation of gene expression . Nat. Biotechnol. . 19 . 5 . 440–5 . 2001 . 11329013 . 10.1038/88107 . 25064683 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Clark HF, Gurney AL, Abaya E . The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment . Genome Res. . 13 . 10 . 2265–70 . 2003 . 12975309 . 10.1101/gr.1293003 . 403697 . etal.
• Ghose S, Weickert CS, Colvin SM . Glutamate carboxypeptidase II gene expression in the human frontal and temporal lobe in schizophrenia . Neuropsychopharmacology . 29 . 1 . 117–25 . 2004 . 14560319 . 10.1038/sj.npp.1300304 . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Janssen B, Hohenadel D, Brinkkoetter P . Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1 . Diabetes . 54 . 8 . 2320–7 . 2005 . 16046297 . 10.2337/diabetes.54.8.2320 . etal. free .
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 . etal.
• Liu T, Qian WJ, Gritsenko MA . Human Plasma N-Glycoproteome Analysis by Immunoaffinity Subtraction, Hydrazide Chemistry, and Mass Spectrometry . J. Proteome Res. . 4 . 6 . 2070–80 . 2006 . 16335952 . 10.1021/pr0502065 . 1850943 . etal.
• Zschocke J, Nebel A, Wicks K . Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease . Mech. Ageing Dev. . 127 . 11 . 817–20 . 2007 . 16965804 . 10.1016/j.mad.2006.08.002 . 32393210 . etal.
• Zhang P, Chan DW, Zhu Y . Identification of carboxypeptidase of glutamate like-B as a candidate suppressor in cell growth and metastasis in human hepatocellular carcinoma . Clin. Cancer Res. . 12 . 22 . 6617–25 . 2007 . 17121880 . 10.1158/1078-0432.CCR-06-1307 . etal. free .
• Freedman BI, Hicks PJ, Sale MM . A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans . Nephrol. Dial. Transplant. . 22 . 4 . 1131–5 . 2007 . 17205963 . 10.1093/ndt/gfl717 . etal. free .
• Riedl E, Koeppel H, Brinkkoetter P . A CTG polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells . Diabetes . 56 . 9 . 2410–3 . 2007 . 17601991 . 10.2337/db07-0128 . etal. free .
• Sauerhöfer S, Yuan G, Braun GS . L-carnosine, a substrate of carnosinase-1, influences glucose metabolism . Diabetes . 56 . 10 . 2425–32 . 2007 . 17601992 . 10.2337/db07-0177 . etal. free .

Notes and References

1. Teufel M, Saudek V, Ledig JP, Bernhardt A, Boularand S, Carreau A, Cairns NJ, Carter C, Cowley DJ, Duverger D, Ganzhorn AJ, Guenet C, Heintzelmann B, Laucher V, Sauvage C, Smirnova T . Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase . J Biol Chem . 278 . 8 . 6521–31 . Feb 2003 . 12473676 . 10.1074/jbc.M209764200 . free .
2. Web site: Entrez Gene: CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family).