PMPCB
Description
The PMPCB gene provides instructions for making a protein called mitochondrial processing peptidase beta subunit. This protein is part of a complex enzyme found within the mitochondria, the powerhouses of cells. This enzyme plays a crucial role in the maturation of proteins destined for the mitochondria. It cleaves off specific sequences from newly synthesized proteins, enabling them to fold correctly and function properly within this cellular organelle. This process is vital for the proper functioning of mitochondria, which are responsible for energy production, cellular signaling, and other important cellular processes.
Associated Diseases
- Mitochondrial Complex I Deficiency (MC1D): Mutations in PMPCB can lead to defective mitochondrial complex I, a key enzyme involved in cellular energy production. This deficiency can result in a range of symptoms, including muscle weakness, developmental delays, and neurological problems.
- Leigh Syndrome: This severe neurological disorder is often linked to defects in mitochondrial function, and mutations in PMPCB have been implicated as a potential cause.
- Other Mitochondrial Disorders: PMPCB mutations have been associated with a broader range of mitochondrial disorders, often characterized by symptoms related to energy production and cellular function.
Did you know?
The PMPCB gene is located on chromosome 11, which is one of the largest human chromosomes and contains many genes involved in diverse cellular processes.
