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:

  • 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.

  • Other neurodevelopmental disorders: ABHD14A-ACY1 mutations have also been associated with other neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability.

  • 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.


Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.