NUBPL

Ideogram human chromosome 14

NUBPL

NUBPL is a gene that encodes a protein involved in the assembly of iron-sulfur clusters in mitochondria. Mutations in the NUBPL gene have been associated with a rare genetic disorder known as mitochondrial complex I deficiency.

Function

The NUBPL gene provides instructions for making a protein that is essential for the proper functioning of complex I, a large protein complex in the mitochondria that plays a key role in energy production. The protein encoded by NUBPL is involved in the assembly of iron-sulfur clusters, which are critical components of many proteins involved in various cellular processes.

Clinical Significance

Mutations in the NUBPL gene can lead to mitochondrial complex I deficiency, a condition characterized by a wide range of symptoms including muscle weakness, developmental delays, and neurological problems. Severe forms of mitochondrial complex I deficiency can be life-threatening and may affect multiple organ systems.

Research

Research on NUBPL and mitochondrial complex I deficiency is ongoing, with scientists working to better understand the molecular mechanisms underlying these conditions. Studies are focused on developing potential treatments and interventions to improve outcomes for individuals affected by mutations in the NUBPL gene.

See also

• Mitochondrial complex I deficiency
• Iron-sulfur cluster