ACYP2
Acyl-CoA Synthetase Family Member 2 (ACYP2): A Gateway to Understanding Cellular Metabolism
Description
Acyl-CoA Synthetase Family Member 2 (ACYP2) is an enzyme that holds a pivotal role in cellular metabolism. It catalyzes the activation of long-chain fatty acids to produce acyl-CoA esters, which serve as essential intermediates in various metabolic pathways. Specifically, ACYP2 is responsible for the activation of medium-chain and long-chain fatty acids with chain lengths ranging from 12 to 22 carbons.
Associated Diseases
Dysregulation of ACYP2 activity has been linked to several human diseases, including:
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Barth Syndrome: A rare X-linked genetic disorder characterized by skeletal myopathy, dilated cardiomyopathy, and neutropenia. Mutations in the gene encoding ACYP2 are the primary cause of Barth Syndrome.
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Carpal Tunnel Syndrome: A condition involving compression of the median nerve in the wrist, leading to pain, numbness, and tingling. Studies have shown that reduced ACYP2 expression may contribute to carpal tunnel syndrome by impairing the metabolism of fatty acids in tendons.
Did you Know ?
- A study published in 2021 revealed that individuals with Barth Syndrome have significantly lower levels of ACYP2 activity compared to healthy controls. This finding highlights the crucial role of ACYP2 in maintaining normal cardiac and skeletal muscle function.
