CNDP1

Last updated
CNDP1
Available structures
PDB Ortholog search: PDBe RCSB
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
View/Edit Human View/Edit Mouse

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

Contents

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.

Related Research Articles

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<span class="mw-page-title-main">Carnosinemia</span> Disease

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<span class="mw-page-title-main">Cytosol nonspecific dipeptidase</span>

Cytosolic non-specific dipeptidase also known as carnosine dipeptidase 2 is an enzyme that in humans is encoded by the CNDP2 gene. This enzyme catalyses the following chemical reaction

Beta-Ala-His dipeptidase is an enzyme. This enzyme catalyses the following chemical reaction

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000150656 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056162 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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 (Feb 2003). "Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase". J Biol Chem. 278 (8): 6521–31. doi: 10.1074/jbc.M209764200 . PMID   12473676.
  6. 1 2 "Entrez Gene: CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)".

Further reading