AADACL2
Description of AADACL2
AADACL2 (Aryladenylate adenylyltransferase 2) is a protein-coding gene that plays a crucial role in cellular metabolism and inflammation. It encodes an enzyme involved in the synthesis of cyclic adenosine monophosphate (cAMP), an important second messenger that regulates various cellular processes.
Associated Diseases
Mutations in AADACL2 have been linked to several genetic disorders, including:
- Polyarteritis nodosa (PAN): A rare autoimmune disease characterized by inflammation and damage to blood vessels.
- Neonatal-onset multisystem inflammatory disease (NOMID): A life-threatening condition that causes severe inflammation in multiple organs.
- Meningococcal disease: A bacterial infection that can lead to meningitis and septicemia.
- Infantile-onset inflammatory bowel disease (IIBD): A rare form of chronic inflammation in the gastrointestinal tract.
Did you Know ?
- Mutations in AADACL2 are estimated to account for approximately 10% of cases of polyarteritis nodosa.
