RNASEH2B : ribonuclease H2 subunit B

Description

The RNASEH2B gene provides instructions for making a subunit of an enzyme called RNase H2. This enzyme is essential for DNA replication and repair, as it removes RNA primers from DNA strands, allowing for the proper joining of DNA fragments. RNASEH2B mutations can lead to various genetic disorders, highlighting the gene‘s critical role in maintaining genomic integrity.

Associated Diseases

• Aicardi-Goutières syndrome (AGS)
• Cerebral palsy
• Microcephaly
• Intellectual disability
• Developmental delay

Did you know?

RNASEH2B mutations can cause a rare and severe neurological disorder called Aicardi-Goutières syndrome, which is characterized by intellectual disability, seizures, and other neurological problems.