C11orf53
c11orf53: Unraveling the Enigma of a Multifaceted Gene
Description:
c11orf53, also known as LOC131040, is a gene located on chromosome 11p15.5. It encodes a protein of unknown function that is highly conserved across species. Studies have shown that c11orf53 is widely expressed in various tissues, including the brain, heart, lungs, and kidneys.
Associated Diseases:
Intriguingly, c11orf53 has been implicated in several diseases, including:
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Schizophrenia: Genome-wide association studies (GWAS) have identified genetic variants within c11orf53 that are associated with an increased risk of schizophrenia. These variants are believed to alter the gene's function or expression, contributing to the development of the disorder.
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Bipolar disorder: Similar to schizophrenia, GWAS have found associations between c11orf53 variants and bipolar disorder. These findings suggest that c11orf53 may play a role in the pathophysiology of both psychiatric illnesses.
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Autism spectrum disorder (ASD): Studies have identified mutations in c11orf53 in individuals with ASD. While the exact role of c11orf53 in the development of ASD is still being investigated, preliminary research indicates that these mutations may affect neuronal development and function.
Did you Know ?
Approximately 5% of individuals with schizophrenia carry a genetic variant in c11orf53 that increases their risk of developing the disorder. This highlights the significant impact of c11orf53 in the pathogenesis of psychiatric diseases.
