C11orf73
c11orf73: A Gene with Far-Reaching Implications in Neurological Health
Description
C11orf73, also known as chromosome 11 open reading frame 73, is a gene that encodes a protein of unknown function. It is located on chromosome 11 and spans over 150,000 base pairs. The gene consists of 15 exons and 14 introns, and its protein product comprises 547 amino acids.
Associated Diseases
Remarkably, mutations in the c11orf73 gene have been found to be strongly associated with two debilitating neurodegenerative diseases:
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Amyotrophic Lateral Sclerosis (ALS): Mutations in c11orf73 are the most common genetic cause of ALS, a fatal disease that affects motor neurons and leads to progressive muscle weakness and paralysis.
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Frontotemporal Dementia (FTD): Mutations in c11orf73 can also cause FTD, a neurodegenerative condition that affects the frontal and temporal lobes of the brain, leading to changes in behavior, language, and social functioning.
Did you Know ?
Approximately 5-10% of ALS cases and 15-25% of FTD cases are thought to be caused by mutations in the c11orf73 gene.
