DNM1L

Description

The DNM1L gene, also known as dynamin 1-like, plays a vital role in the process of synaptic vesicle recycling, a fundamental mechanism for neurotransmission. It encodes a protein that is responsible for the fission of the plasma membrane during the endocytosis of synaptic vesicles, allowing for the efficient retrieval and reuse of neurotransmitter-filled vesicles. This process is crucial for maintaining proper neuronal signaling and communication throughout the nervous system.

Associated Diseases

• Charcot-Marie-Tooth disease type 2K (CMT2K)
• Hereditary spastic paraplegia type 8 (SPG8)
• Centronuclear myopathy (CNM)
• Infantile-onset axonal neuropathy (IAN)
• Distal hereditary motor neuropathy (dHMN)
• Amyotrophic lateral sclerosis (ALS)

Did you know?

The DNM1L protein forms a ring-like structure around the neck of the budding vesicle, and its GTPase activity is essential for the scission event. This process is highly dynamic and requires precise coordination with other proteins involved in vesicle recycling.