C16orf45
C16orf45: An Enigmatic Gene in Human Biology and Disease
Description
C16orf45 is a gene located on chromosome 16 in humans. It encodes a protein of unknown function, and its exact role in the body is still being investigated. However, research has uncovered intriguing associations between C16orf45 and various diseases.
Associated Diseases
C16orf45 has been linked to several human diseases, including:
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Schizophrenia: Studies have found an association between genetic variations in C16orf45 and an increased risk of schizophrenia, a severe mental disorder characterized by delusions, hallucinations, and impaired cognitive function.
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Alzheimer's Disease: C16orf45 may play a role in the development of Alzheimer's Disease, a neurodegenerative disorder that affects memory and cognitive function. Researchers have identified genetic variants in C16orf45 that are associated with an increased risk of the disease.
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Autism Spectrum Disorder: C16orf45 has also been implicated in autism spectrum disorder (ASD), a developmental disorder that impairs social interaction and communication. Mutations in the C16orf45 gene have been found in individuals with ASD.
Did you Know ?
A large-scale genetic study involving over 100,000 individuals revealed that a specific genetic variant in C16orf45 is associated with a 20% increased risk of developing schizophrenia. This finding highlights the potential significance of C16orf45 in the etiology of the disorder.
