RPAP3
Description
The RPAP3 (RNA polymerase II associated protein 3) is a protein-coding gene located on chromosome 12.
RPAP3 acts as a bridge between RNA polymerase II, the enzyme responsible for transcribing DNA into RNA, and chaperone/scaffolding proteins. This suggests that RPAP3 plays a crucial role in connecting RNA polymerase II to the proteins that regulate the assembly and function of protein complexes.
RPAP3 is also known as Tah1, hSpagh.
Associated Diseases
- brain injury
- lysosomal storage disease
- pseudohypoparathyroidism type 2
- familial isolated hypoparathyroidism due to agenesis of parathyroid gland
- hypoparathyroidism, familial isolated, 2
- hypoparathyroidism, familial isolated 1
- congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- pseudohypoparathyroidism type 1B
- Kennedy disease
- familial isolated hyperparathyroidism
- 22q11.2 deletion syndrome
