POLR3A

RNA polymerase III subunit A is an enzyme which is encoded by the gene POLR3A.

Gene

The POLR3A gene is located on the long arm of chromosome 10 on position 22.3, from base pair from base pair 77,975,149 to base pair 78,029,515.

Function

RNA polymerase III subunit A along with subunit B forms the catalytic core of RNA [polymerase III]. Together, these two subunits create the active center of the enzyme where RNA synthesis occurs.
RNA polymerase III subunit A also detects foreign DNA and triggers an innate immune response.

Clinical significance

Wiedemann–Rautenstrauch syndrome

Wiedemann–Rautenstrauch syndrome is a rare genetic disorder, which is characterised by prenatal and postnatal growth restriction, lipodystrophy, sparse hair, relatively large head, and a peculiar face. Intellectual disability is also common.

4H leukodystrophy

4H leukodystrophy is a rare genetic disorder, which is characterised by hypogonadotropic hypogonadism, dental abnormalities, and hypomyelination.