CNDP2

Chr 18

carnosine dipeptidase 2

Also known as: CN2, CPGL, HEL-S-13, HsT2298, PEPA

NCBI Gene: 55748 ENSG00000133313 UniProt: Q96KP4 OMIM: 169800

This gene encodes a nonspecific dipeptidase that hydrolyzes peptide bonds in dipeptides, particularly threonyl dipeptides and cysteinylglycine (an intermediate in glutathione metabolism), and also metabolizes N-lactoyl-amino acids. Mutations cause carnosinase deficiency 2, an autosomal recessive disorder characterized by elevated carnosine levels in cerebrospinal fluid. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.93

LOEUF

Mechanism· predicted