CNDP1

Beta-Ala-His dipeptidase is an enzyme that in humans is encoded by the CNDP1 gene.^[5][6]

CNDP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3DLJ
Identifiers
Aliases	CNDP1, CN1, CPGL2, HsT2308, carnosine dipeptidase 1 (metallopeptidase M20 family), carnosine dipeptidase 1
External IDs	OMIM: 609064; MGI: 2451097; HomoloGene: 57178; GeneCards: CNDP1; OMA:CNDP1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q22.3 Start 74,534,500 bp[1] End 74,587,212 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 E4 Start 84,628,634 bp[2] End 84,668,220 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior ganglion of vagus nerve endothelial cell C1 segment medulla oblongata corpus callosum pons superior vestibular nucleus ventral tegmental area subthalamic nucleus substantia nigra Top expressed in vestibular membrane of cochlear duct proximal tubule right kidney human kidney primary oocyte Epithelium of choroid plexus secondary oocyte efferent ductule jejunum renal pelvis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function carboxypeptidase activity hydrolase activity peptidase activity metallopeptidase activity metal ion binding dipeptidase activity Cellular component extracellular region cytosol Biological process metabolism proteolysis regulation of cellular protein metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84735 338403 Ensembl ENSG00000150656 ENSMUSG00000056162 UniProt Q96KN2 Q8BUG2 RefSeq (mRNA) NM_032649 NM_177450 RefSeq (protein) NP_116038 NP_803233 Location (UCSC) Chr 18: 74.53 – 74.59 Mb Chr 18: 84.63 – 84.67 Mb PubMed search [3] [4]
Wikidata
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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.^[6]

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