CNDP1

CNDP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases CNDP1, CN1, CPGL2, HsT2308, carnosine dipeptidase 1 (metallopeptidase M20 family), carnosine dipeptidase 1
External IDs MGI: 2451097 HomoloGene: 57178 GeneCards: CNDP1
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

84735

338403

Ensembl

ENSG00000150656

ENSMUSG00000056162

UniProt

Q96KN2

Q8BUG2

RefSeq (mRNA)

NM_032649

NM_177450

RefSeq (protein)

NP_116038.4

NP_803233.2

Location (UCSC) Chr 18: 74.53 – 74.59 Mb Chr 18: 84.61 – 84.65 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Beta-Ala-His dipeptidase is an enzyme that in humans is encoded by the CNDP1 gene.[3][4]

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.[4]

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

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 1 2 "Entrez Gene: CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)".

Further reading


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