MLH3

MLC1 (Megalin-like protein 1) is a protein that in humans is encoded by the MLC1 gene. This protein is primarily expressed in the brain and is associated with the regulation of ion and water homeostasis in the central nervous system.

Structure

MLC1 is a membrane protein that is predominantly localized in astrocytic end-feet, which are specialized structures of astrocytes that ensheath blood vessels in the brain. The protein is composed of several transmembrane domains, which allow it to span the lipid bilayer of the cell membrane.

Function

The exact function of MLC1 is not fully understood, but it is believed to play a critical role in maintaining the integrity of the blood-brain barrier and in the regulation of ion and water transport in the brain. MLC1 is thought to interact with other proteins such as TRPV4 and Aquaporin 4, which are involved in osmoregulation and ion transport.

Clinical Significance

Mutations in the MLC1 gene are associated with a rare neurological disorder known as Megalencephalic leukoencephalopathy with subcortical cysts (MLC). This condition is characterized by an enlarged brain (megalencephaly), white matter abnormalities, and the presence of subcortical cysts. Patients with MLC often present with developmental delay, motor dysfunction, and seizures.

Genetics

The MLC1 gene is located on chromosome 22q13.33. It consists of several exons and encodes a protein of approximately 377 amino acids. Various mutations, including missense, nonsense, and frameshift mutations, have been identified in patients with MLC, leading to a loss of function of the MLC1 protein.

Research Directions

Current research is focused on understanding the precise molecular mechanisms by which MLC1 mutations lead to the pathophysiology of MLC. Studies are also exploring potential therapeutic approaches, including gene therapy and small molecule drugs, to restore MLC1 function or compensate for its loss.

Also see

• Astrocyte
• Blood-brain barrier
• Ion channel
• Aquaporin 4
• TRPV4