CNDP1
Description
The CNDP1 (carnosine dipeptidase 1) is a protein-coding gene located on chromosome 18.
The CNDP1 gene in humans encodes a member of the M20 metalloprotease family. The encoded protein, primarily expressed in the brain, is a homodimeric dipeptidase identified as human carnosinase. The gene contains a trinucleotide (CTG) repeat length polymorphism within the coding region. Mutations in this gene can lead to the metabolic disorder Carnosinemia.
CNDP1 catalyzes the breakdown of peptides with a histidine at the C-terminus. It exhibits the strongest activity against carnosine (beta-alanyl-L-histidine) and anserine (beta-alanyl-3-methyl-histidine).
CNDP1 is also known as CN1, CPGL2, HsT2308.
