PAEP
The PAEP Gene: A Comprehensive Guide
Description
The PAEP gene, also known as the prolylcarboxypeptidase (angiotensinase C) gene, encodes an enzyme called prolylcarboxypeptidase (PCP). PCP is involved in various physiological processes, including the metabolism of hormones, peptides, and neurotransmitters.
PCP cleaves proline residues from the C-terminus of peptides. This activity plays a crucial role in regulating the function and stability of numerous hormones, including angiotensin II and vasopressin. Angiotensin II is involved in blood pressure regulation, while vasopressin regulates water retention.
Associated Diseases
Mutations in the PAEP gene have been linked to several diseases, including:
- Sjögren-Larsson syndrome: A rare autosomal recessive disorder characterized by intellectual disability, spasticity, and ichthyosis (a skin condition).
- Idiopathic generalized epilepsy: A common type of epilepsy with no known cause.
- Autism spectrum disorder: A developmental disorder characterized by social and communication difficulties.
Did you Know ?
Mutations in the PAEP gene account for approximately 5-10% of cases of Sjögren-Larsson syndrome.
