ENTPD1
Overview
ENTPD1, also known as Ectonucleoside triphosphate diphosphohydrolase 1, is an enzyme encoded by the ENTPD1 gene in humans. This enzyme is a member of the ectonucleoside triphosphate diphosphohydrolase family, which plays a crucial role in the regulation of extracellular nucleotide levels.
Function
ENTPD1 is primarily responsible for the hydrolysis of extracellular nucleotides such as ATP and ADP into AMP. This activity is essential for maintaining the balance of purinergic signaling, which is involved in various physiological processes including inflammation, thrombosis, and immune responses. By modulating the levels of extracellular nucleotides, ENTPD1 influences the activation of purinergic receptors, thereby affecting cellular communication and function.
Structure
The ENTPD1 protein is a membrane-bound enzyme that is characterized by its ability to bind divalent cations, which are necessary for its enzymatic activity. The protein structure includes several conserved domains that are critical for its function, including the apyrase conserved region (ACR) domains that are involved in nucleotide binding and hydrolysis.
Clinical Significance
ENTPD1 has been implicated in various pathological conditions. Its role in modulating immune responses makes it a potential target for therapeutic interventions in autoimmune diseases and cancer. In particular, the enzyme's ability to regulate extracellular ATP levels can influence the tumor microenvironment, affecting tumor growth and immune evasion.
Genetic Information
The ENTPD1 gene is located on chromosome 10 in humans. Mutations or alterations in the expression of this gene can lead to dysregulation of purinergic signaling, contributing to disease pathogenesis. Genetic studies have explored the association of ENTPD1 polymorphisms with susceptibility to certain diseases, including cardiovascular disorders and chronic inflammatory conditions.
Research and Development
Ongoing research is focused on understanding the detailed mechanisms by which ENTPD1 regulates purinergic signaling and its implications in health and disease. Novel therapeutic strategies are being developed to modulate ENTPD1 activity, aiming to enhance its beneficial effects while minimizing potential adverse outcomes.
Also see
Template:Human chromosome 10 gene
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Contributors: Prab R. Tumpati, MD