RNASEH2A
RNASEH2A is a gene that encodes the Ribonuclease H2 subunit A protein in humans. This protein is a part of the Ribonuclease H family, which is responsible for the hydrolysis of RNA in DNA/RNA hybrids, playing a crucial role in DNA replication and repair.
Function[edit]
The RNASEH2A gene provides instructions for making a protein that is one of three subunits of the Ribonuclease H2 (RNase H2) enzyme. This enzyme is involved in DNA replication and repair, and it helps maintain the integrity of the cell's genetic information. Specifically, RNase H2 is responsible for recognizing and removing ribonucleotides, which are the building blocks of RNA, that have been mistakenly incorporated into DNA molecules.
Clinical Significance[edit]
Mutations in the RNASEH2A gene have been associated with Aicardi-Goutières syndrome, a disorder that affects the brain, the immune system, and the skin. This condition is characterized by an early onset, often in infancy, and can cause severe physical and intellectual disability. Mutations in the RNASEH2A gene can also cause a form of systemic lupus erythematosus, an autoimmune disorder in which the body's immune system mistakenly attacks healthy tissues.
