ADARB1
ADARB1: A Gene with Diverse Roles in Health and Disease
Description
ADARB1 (Adenosine Deaminase Acting on RNA 1) is a gene that encodes an enzyme involved in RNA editing, a process that modifies the nucleotide sequence of RNA transcripts. RNA editing can alter the amino acid sequence of proteins, expand the diversity of transcripts, and regulate gene expression.
ADARB1 specifically deaminates adenosine (A) to inosine (I) in double-stranded RNA. Inosine is recognized as guanine (G) by the cellular machinery, leading to a change in the RNA sequence. This editing can modulate protein structure, function, and stability.
Associated Diseases
Mutations in the ADARB1 gene have been linked to several neurological and immunological disorders, including:
- Aicardi-Goutières syndrome: A rare genetic disease characterized by severe inflammation in the brain, skin, and joints.
- Dyschromatosis symmetrica hereditaria: A skin disorder characterized by reddish-brown patches on the face and neck.
- Lupus erythematosus: An autoimmune disease that targets connective tissues and organs.
- Multiple sclerosis: A chronic inflammatory disease that affects the central nervous system.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by Aicardi-Goutières syndrome, which is caused by mutations in ADARB1.
