Biology:CNDP1

Generic protein structure example

Beta-Ala-His dipeptidase is an enzyme that in humans is encoded by the CNDP1 gene.

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

• "Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine". Clin. Chim. Acta 132 (2): 157–65. 1983. doi:10.1016/0009-8981(83)90243-7. PMID 6616870. 
• "Human serum carnosinase: characterization, distinction from cellular carnosinase, and activation by cadmium". Clin. Chim. Acta 123 (3): 221–31. 1982. doi:10.1016/0009-8981(82)90166-8. PMID 7116644. 
• "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548. 
• "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. 2001. doi:10.1038/88107. PMID 11329013. 
• "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "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. doi:10.1101/gr.1293003. PMID 12975309. 
• "Glutamate carboxypeptidase II gene expression in the human frontal and temporal lobe in schizophrenia". Neuropsychopharmacology 29 (1): 117–25. 2004. doi:10.1038/sj.npp.1300304. PMID 14560319. 
• "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1". Diabetes 54 (8): 2320–7. 2005. doi:10.2337/diabetes.54.8.2320. PMID 16046297. 
• "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R. 
• "Human Plasma N-Glycoproteome Analysis by Immunoaffinity Subtraction, Hydrazide Chemistry, and Mass Spectrometry". J. Proteome Res. 4 (6): 2070–80. 2006. doi:10.1021/pr0502065. PMID 16335952. 
• "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. doi:10.1016/j.mad.2006.08.002. PMID 16965804. 
• "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. doi:10.1158/1078-0432.CCR-06-1307. PMID 17121880. 
• "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. doi:10.1093/ndt/gfl717. PMID 17205963. 
• "A CTG polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells". Diabetes 56 (9): 2410–3. 2007. doi:10.2337/db07-0128. PMID 17601991. 
• "L-carnosine, a substrate of carnosinase-1, influences glucose metabolism". Diabetes 56 (10): 2425–32. 2007. doi:10.2337/db07-0177. PMID 17601992. 

External links

• Human CNDP1 genome location and CNDP1 gene details page in the UCSC Genome Browser.