MDN1

Description

The MDN1 (midasin AAA ATPase 1) is a protein-coding gene located on chromosome 6.

MDN1, midasin homolog (yeast), is a protein that in humans is encoded by the MDN1 gene. Midasin is a member of the AAA ATPase family.

MDN1 is a nuclear chaperone that plays a crucial role in the maturation and nuclear export of pre-60S ribosomal subunits. It acts at various stages of ribosome maturation, removing ribosomal factors and facilitating transitions between different stages. At an early stage, MDN1 mediates the dissociation of the PeBoW complex (PES1-BOP1-WDR12) from pre-60S particles, enabling their export from the nucleolus to the nucleoplasm. Subsequently, MDN1 is recruited to the nucleoplasmic pre-60S particles through its interaction with the SUMO-conjugated PELP1 complex, but only after the 5S RNP at the central protuberance has completed its maturation.

MDN1 is also known as Rea1.

Associated Diseases

• Alzheimer disease
• Parkinson disease
• lysosomal storage disease
• multiple sclerosis
• isolated asymptomatic elevation of creatine phosphokinase
• pentosuria
• myopathy due to calsequestrin and SERCA1 protein overload
• metabolic myopathy due to lactate transporter defect
• cancer
• type 2 diabetes mellitus