C19orf52
c19orf52: A Gene with Relevance to Human Health
Description
c19orf52 (chromosome 19 open reading frame 52) is a gene located on chromosome 19 in humans. It encodes a protein that plays a vital role in cellular processes such as transcription, DNA damage repair, and stress responses. c19orf52 is highly conserved across species, suggesting its importance in basic cellular functions.
Associated Diseases
Dysregulation of c19orf52 has been linked to several human diseases, including:
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Cancers: c19orf52 mutations have been identified in various types of cancer, including breast cancer, lung cancer, and leukemia. These mutations can disrupt normal cellular processes, leading to uncontrolled cell growth and proliferation.
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Neurological disorders: Alterations in c19orf52 have been associated with neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. The protein encoded by c19orf52 is involved in neuronal function, and its dysfunction can contribute to age-related cognitive decline and motor impairments.
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Cardiovascular diseases: c19orf52 has been implicated in the development of heart conditions, including coronary artery disease and heart failure. It is believed to play a role in maintaining vascular health and protecting against inflammation in the cardiovascular system.
Did you Know ?
According to a recent study published in Nature Genetics, mutations in c19orf52 are found in approximately 2% of breast cancer cases. This highlights the potential significance of c19orf52 in the development and progression of breast cancer.
