ACPT
Description
The ACPT gene provides instructions for making the enzyme acetylcholinesterase, crucial for cartilage health. This enzyme breaks down the neurotransmitter acetylcholine, playing a vital role in the proper function of chondrocytes, cells responsible for cartilage formation and maintenance. Mutations in ACPT can lead to a buildup of acetylcholine, potentially disrupting chondrocyte activity and contributing to cartilage degeneration.
Associated Diseases
Did you know?
ACPT is also expressed in the brain and plays a role in nerve function.
