FAM220A
Description:
FAM220A (Family with Sequence Similarity 220, Member A) is a gene located on human chromosome 11. It encodes a protein that plays a crucial role in regulating mitochondrial function and immune response. Mutations in fam220a have been linked to several inherited disorders.
Associated Diseases:
Mutations in fam220a have been associated with a range of diseases, including:
- Early-onset mitochondrial encephalopathy (EOME): A rare, neurodegenerative disorder characterized by seizures, developmental delay, and progressive neurological dysfunction.
- Lymphohistiocytosis: A rare inflammatory disorder that primarily affects infants and young children. Symptoms include skin rashes, liver enlargement, and immune system dysfunction.
- Autoimmune diseases: Autoimmune diseases, such as type 1 diabetes and rheumatoid arthritis, have been observed in individuals with fam220a mutations.
Did you Know ?
- In a study published in the journal Neurology, researchers found that mutations in fam220a accounted for approximately 15% of cases of early-onset mitochondrial encephalopathy.
