C19orf24
C19orf24: Unraveling the Mysteries of a Novel Gene
Description
C19orf24 (Chromosome 19 open reading frame 24) is a gene located on the 19th chromosome of the human genome. It encodes a protein of unknown function, and its role in human biology and health is still under investigation. Researchers are actively studying C19orf24 to understand its potential involvement in various physiological processes and diseases.
Associated Diseases
While the precise link between C19orf24 and specific diseases is yet to be fully established, genetic studies have suggested its potential association with several conditions:
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Autism Spectrum Disorder (ASD): C19orf24 has been identified as a candidate gene for ASD, with variations in its sequence observed in individuals with the disorder.
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Cardiomyopathy: Rare mutations in C19orf24 have been associated with dilated cardiomyopathy, a condition characterized by weakened heart muscles.
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Intellectual Disability: Deletions or duplications in the region of the C19orf24 gene have been linked to intellectual disability, indicating its role in cognitive development.
Did you Know ?
A large-scale genetic study involving over 10,000 individuals found that a specific variant in the C19orf24 gene is associated with an increased risk of developing autism spectrum disorder. The odds ratio for ASD in individuals carrying this variant was estimated to be 1.46, suggesting a modest but significant contribution to the disorder's genetic etiology.
