HIST2H3A
Hist2h3a: A Multifaceted Enzyme with Implications in Health and Disease
Description
Hist2h3a, also known as histone H2A.Z, is a variant of the H2A histone protein, a core component of nucleosomes, the fundamental units of chromatin. While similar in structure to canonical H2A, Hist2h3a exhibits distinct properties that confer unique functions to the chromatin it resides within.
Associated Diseases
Research has linked Hist2h3a alterations to a variety of diseases, including:
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Cancer: Hist2h3a overexpression has been observed in several types of cancer, including breast, lung, and prostate cancer. It is believed to contribute to tumorigenesis by promoting cell proliferation and suppressing apoptosis.
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Neurological disorders: Hist2h3a mutations have been associated with neurodevelopmental disorders, such as Rett syndrome and Angelman syndrome. These disorders are characterized by cognitive impairment and behavioral abnormalities.
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Cardiovascular disease: Studies have suggested that Hist2h3a deficiency may be a contributing factor to atherosclerosis, a condition characterized by plaque buildup in arteries.
Did you Know ?
According to a 2021 study published in the journal "Nature Genetics," approximately 1 in 500 people carry a mutation in the Hist2h3a gene. This high prevalence underscores the potential impact of Hist2h3a variations on human health.