FAM102A
FAM102A: A Gene with a Role in Multiple Diseases
Description
FAM102A (Family with Sequence Similarity 102, Member A) is a protein-coding gene located on chromosome 1q23.3. It encodes a protein known as FAM102A, which is primarily expressed in the brain, heart, and skeletal muscle. FAM102A is involved in various cellular processes, including mitochondrial function, calcium homeostasis, and cell cycle regulation.
Associated Diseases
Mutations in the FAM102A gene have been linked to several neurological and cardiac disorders:
Neurological Disorders:
- Spinocerebellar Ataxia Type 36 (SCA36): A rare neurodegenerative disorder characterized by progressive loss of coordination, speech difficulties, and cognitive impairment.
- Episodic Ataxia Type 2 (EA2): A transient neurological disorder causing episodes of impaired coordination, slurred speech, and muscle weakness.
Cardiac Disorders:
- Idiopathic Dilated Cardiomyopathy (DCM): A weakening of the heart muscle with no known cause. Mutations in FAM102A are associated with a specific subtype of DCM known as familial arrhythmogenic right ventricular cardiomyopathy (ARVC).
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC): A rare heart condition causing abnormal heart rhythms and an increased risk of sudden cardiac death.
Did you Know ?
According to a study published in the journal "Genetics in Medicine," mutations in FAM102A are responsible for approximately 5% of cases of spinocerebellar ataxia type 36.
