FAM160A1
FAM160A1: A Comprehensive Guide
Description
FAM160A1, also known as Family with Sequence Similarity 160 Member A1, is a protein-coding gene located on chromosome 11q13.2. It encodes a protein involved in cellular adhesion and migration. FAM160A1 is expressed in various tissues, including the brain, heart, and skeletal muscle.
Associated Diseases
Mutations in the FAM160A1 gene have been linked to a range of neurological disorders, including:
- Amyotrophic Lateral Sclerosis (ALS): A progressive neurological disease that affects motor neurons in the brain and spinal cord, causing muscle weakness, atrophy, and eventual paralysis.
- Frontotemporal Dementia (FTD): A neurodegenerative disease that affects the frontal and temporal lobes of the brain, resulting in changes in behavior, language, and cognition.
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS): A rare genetic disorder caused by mitochondrial dysfunction, leading to seizures, strokes, and other neurological symptoms.
- Autism Spectrum Disorder (ASD): A developmental disorder that affects social communication and interaction skills, along with repetitive behaviors.
Did you Know ?
Approximately 1 in 1,000 individuals are carriers of a mutation in the FAM160A1 gene. However, only a small percentage of these carriers will develop a related disorder. This suggests that other genetic or environmental factors may also play a role in disease development.
