NUBPL

Description

NUBPL (Nuclear-encoded mitochondrial protein, also known as MTP18) is a gene that plays a vital role in mitochondrial protein synthesis. It encodes a protein essential for the assembly and function of the mitochondrial ribosome, the cellular machinery responsible for synthesizing proteins necessary for mitochondrial respiration. Mutations in NUBPL can disrupt this process, leading to a range of health complications.

Associated Diseases

• Mitochondrial Complex I Deficiency
• Leigh Syndrome
• Hypertrophic Cardiomyopathy
• Neurological Disorders
• Myopathies

Did you know?

Mutations in NUBPL can be inherited in an autosomal recessive manner, meaning both parents must carry the mutation for their child to be affected.