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

CNDP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCNDP1, CN1, CPGL2, HsT2308, carnosine dipeptidase 1 (metallopeptidase M20 family), carnosine dipeptidase 1
External IDsOMIM: 609064; MGI: 2451097; HomoloGene: 57178; GeneCards: CNDP1; OMA:CNDP1 - orthologs
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 MbChr 18: 84.63 – 84.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000150656Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056162Ensembl, 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. ^ a b "Entrez Gene: CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)".

Further reading

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