NEFM

NEFM (Neurofilament Medium) is a type of neurofilament protein that is crucial for the structural support and function of neurons. It is one of the three main types of neurofilament proteins, along with NEFL (Neurofilament Light) and NEFH (Neurofilament Heavy).

Structure

NEFM is a medium-sized neurofilament protein, typically around 95-105 kDa in size. It is composed of a central alpha-helical rod domain flanked by non-helical head and tail domains. The rod domain is responsible for the protein's ability to form filaments, while the head and tail domains are involved in interactions with other cellular components.

Function

NEFM plays a critical role in maintaining the structural integrity of neurons. It helps to form a supportive network within the axon, providing a scaffold for the transport of cellular components and contributing to the overall shape and size of the neuron. In addition, NEFM is involved in regulating the speed of axon transport, which is essential for the proper functioning of the nervous system.

Clinical significance

Alterations in NEFM have been associated with a number of neurological disorders. For example, mutations in the NEFM gene have been linked to Charcot-Marie-Tooth disease, a hereditary neuropathy characterized by muscle weakness and sensory loss. Additionally, abnormal accumulation of NEFM has been observed in several neurodegenerative diseases, including Alzheimer's disease and ALS (Amyotrophic Lateral Sclerosis).

See also

• Neurofilament
• NEFL
• NEFH