XPNPEP3

Description

The XPNPEP3 gene encodes a transmembrane protein called X-prolyl aminopeptidase 3, which plays a crucial role in the digestion and absorption of dietary proteins. This enzyme is primarily expressed in the small intestine, where it specifically cleaves proline residues from the N-terminus of peptides. This activity is essential for breaking down proteins into smaller peptides, facilitating their absorption and utilization by the body. Mutations in the XPNPEP3 gene can lead to various genetic disorders, affecting protein digestion and potentially leading to malabsorption syndromes. Understanding the function and regulation of XPNPEP3 is vital for diagnosing and managing these conditions.

Associated Diseases

• X-linked recessive prolyl aminopeptidase deficiency
• Diarrhea
• Malabsorption
• Growth retardation
• Gastrointestinal disorders

Did you know?

XPNPEP3 is a member of the peptidase M20 family, which is known for its broad substrate specificity and role in various biological processes.