C16orf47
c16orf47: An Emerging Gene Linked to Multiple Diseases
Description
c16orf47 is a gene located on chromosome 16 in humans. It encodes a protein of unknown function, but studies have suggested its involvement in various cellular processes, including protein degradation, cell cycle regulation, and immune response.
Associated Diseases
Mutations in c16orf47 have been associated with several diseases, including:
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Brain tumors: c16orf47 mutations are common in gliomas, the most prevalent type of brain tumor. These mutations often lead to overexpression of the c16orf47 protein, which promotes tumor growth.
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Blood cancers: Mutations in c16orf47 have also been linked to certain blood cancers, such as myeloid leukemia and myelodysplastic syndrome. These mutations impair the normal function of blood cells, leading to abnormal growth and proliferation.
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Neurodevelopmental disorders: c16orf47 mutations have been implicated in neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability. These mutations affect the expression and function of the c16orf47 protein, which plays a crucial role in brain development.
Did you Know ?
- Approximately 25-30% of gliomas harbor c16orf47 mutations, making it one of the most frequently mutated genes in these tumors.
