C9orf171


c9orf171: Unveiling the Mysteries of a Gene Linked to Neuropsychiatric Disorders

Description

c9orf171 is a gene located on chromosome 9 that encodes a protein of unknown function. It is highly conserved across species, indicating its importance for cellular processes. Studies have shown that variations in c9orf171 are associated with an increased risk of developing neuropsychiatric disorders, including schizophrenia, bipolar disorder, and autism spectrum disorder.

Associated Diseases

c9orf171 variants have been implicated in a range of neuropsychiatric disorders, including:

  • Schizophrenia: Research has identified several common c9orf171 variants that increase the risk of developing schizophrenia. These variants are thought to disrupt the normal function of c9orf171, leading to alterations in brain structure and function.
  • Bipolar disorder: Studies have also found associations between c9orf171 variants and bipolar disorder, particularly with episodes of mania and depression.
  • Autism spectrum disorder: c9orf171 variants have been linked to an increased risk of autism spectrum disorder, especially in individuals with severe language impairments and social difficulties.

Did you Know ?

According to a large-scale genome-wide association study, a common c9orf171 variant is estimated to be present in approximately 10% of individuals with schizophrenia, suggesting a significant role for this gene in the development of the disorder.



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