CNDP1

Chr 18

carnosine dipeptidase 1

Also known as: CN1, CPGL2, HsT2308

NCBI Gene: 84735 ENSG00000150656 UniProt: Q96KN2 OMIM: 609064

This protein is a brain-specific dipeptidase that hydrolyzes carnosine and other histidine-containing dipeptides. Mutations cause carnosinase deficiency, an autosomal recessive disorder characterized by elevated carnosine levels in urine and cerebrospinal fluid, typically presenting with developmental delay, intellectual disability, and seizures in early childhood. The gene is highly tolerant to loss-of-function variation in the general population.

OMIM ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.00

LOEUF

Multiple*

Mechanism· predicted