LRPPRC

From WikiMD's medical encyclopedia

LRPPRC (Leucine Rich Pentatricopeptide Repeat Containing) is a protein that in humans is encoded by the LRPPRC gene. This protein is known to have a role in the regulation of mitochondrial RNA metabolism and cellular respiration, which are vital processes for the functioning of cells.

Function

The LRPPRC protein is involved in the stabilization of mitochondrial mRNA and the regulation of mitochondrial translation, which are essential for the production of proteins within the mitochondria. This protein is also involved in the regulation of cellular respiration, a process that is crucial for the production of ATP, the main energy source for cells.

Clinical significance

Mutations in the LRPPRC gene have been associated with French Canadian type of Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. This syndrome is characterized by progressive loss of mental and movement abilities, which can lead to early death.

Research

Research into the LRPPRC protein and its functions is ongoing, with a focus on understanding its role in mitochondrial function and its implications for diseases such as Leigh syndrome.

See also

References



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