FAM227A
FAM227A: A Gene Implicated in Human Health and Disease
Description
FAM227A, also known as Family with Sequence Similarity 227 Member A, is a gene that encodes a protein involved in various cellular processes. It is located on chromosome 19q13.42 and spans approximately 100 kilobases. FAM227A is highly conserved across species, suggesting its importance in fundamental biological functions.
Associated Diseases
Mutations in FAM227A have been linked to several diseases, including:
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Amyotrophic Lateral Sclerosis (ALS): FAM227A mutations account for approximately 1% of familial ALS cases. These mutations disrupt the normal function of the FAM227A protein, leading to the degeneration of motor neurons, which are essential for movement.
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Frontotemporal Dementia (FTD): Some mutations in FAM227A can also cause FTD, a neurodegenerative disorder that affects the frontal and temporal lobes of the brain. These mutations result in the aggregation of FAM227A protein in brain cells, leading to neuronal damage and cognitive decline.
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Parkinson‘s Disease: While most cases of Parkinson‘s Disease are caused by other genetic factors, rare mutations in FAM227A have been associated with an increased risk of developing the disease.
Did you Know ?
According to a study published in the journal "Neurology," approximately 6-10% of individuals with familial ALS carry mutations in FAM227A. This makes FAM227A one of the most common genetic causes of this devastating disease.
