ABHD14A-ACY1
Understanding ABHD14A-ACY1: A Comprehensive Overview
Introduction: ABHD14A-ACY1, also known as ABHD14A-21, is a gene that plays a crucial role in human physiology and disease. This blog post aims to provide a comprehensive overview of ABHD14A-ACY1, including its description, associated diseases, research developments, and additional information.
Description: ABHD14A-ACY1 is a member of the ABHD14 family of proteins, which are involved in regulating lipid metabolism and signaling. The ABHD14A-ACY1 protein is localized to the endoplasmic reticulum and has enzyme activity that hydrolyzes a specific class of lipids called N-acylethanolamines (NAEs).
Associated Diseases:
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Canavan disease: ABHD14A-ACY1 mutations are the primary cause of Canavan disease, a rare and fatal neurodegenerative disorder. Canavan disease is characterized by a build-up of NAE in the brain, leading to progressive white matter damage and intellectual disability.
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Other neurodevelopmental disorders: ABHD14A-ACY1 mutations have also been associated with other neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability.
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Neuroinflammation: ABHD14A-ACY1 deficiency has been shown to promote neuroinflammation and exacerbate the severity of neurodegenerative diseases like Alzheimer‘s and Parkinson‘s diseases.
Did you Know ? Approximately 1 in 10,000 individuals worldwide are affected by Canavan disease, making it a relatively rare disorder.
