FAM91A1
FAM91A1: The Gene Linked to Neurological Disorders and Cancer
Description
FAM91A1, also known as chromosome 21 open reading frame 91A1, encodes a protein with multiple functional domains, including a ubiquitin-like domain, a coiled-coil domain, and a transmembrane domain. FAM91A1 is highly conserved across species, suggesting its critical role in biological processes.
Associated Diseases
Mutations in the FAM91A1 gene have been linked to several neurological disorders and cancers. These diseases include:
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Intellectual disability: Mutations in FAM91A1 can cause intellectual disability, a condition characterized by impaired cognitive and adaptive skills.
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Autism spectrum disorder: Many studies have identified FAM91A1 mutations in individuals with autism spectrum disorder, a neurodevelopmental disorder characterized by difficulties with social interaction, communication, and repetitive behaviors.
Did you Know ?
- Research shows that approximately 1 in 100,000 individuals have a mutation in the FAM91A1 gene. However, this number may be higher in certain populations or individuals with a family history of neurological disorders.
