NT5C2
NT5C2: A Gene Encoding a Crucial Enzyme in Human Health
Description
NT5C2, also known as ecto-5‘-nucleotidase or CD73, is a gene located on chromosome 11p15.4 in humans. It encodes an enzyme called ecto-5‘-nucleotidase, which plays a vital role in the metabolism of adenosine, a nucleoside that plays a significant role in various physiological processes.
Ecto-5‘-nucleotidase is a membrane-bound enzyme that converts adenosine monophosphate (AMP) to adenosine. Adenosine has important functions in the regulation of blood flow, inflammation, and immune responses.
Associated Diseases
Mutations in the NT5C2 gene can lead to several diseases, including:
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Sellar/Parasellar Astrocytomas: These are rare brain tumors that affect the sellar and parasellar regions of the brain. NT5C2 mutations are found in a majority of these tumors, making it a potential diagnostic and therapeutic target.
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Acute Lymphoblastic Leukemia (ALL): NT5C2 mutations have been implicated in the development and progression of some types of ALL, a type of cancer that affects blood-forming cells.
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Neurological Disorders: Mutations in NT5C2 have been linked to certain neurological disorders, such as paroxysmal kinesigenic dyskinesia and infantile convulsions and choreoathetosis syndrome.
Did you Know ?
Approximately 20% of sellar/parasellar astrocytomas have mutations in the NT5C2 gene, highlighting its significant role in the development of these tumors.
