GPN1
Description
The GPN1 (GPN-loop GTPase 1) is a protein-coding gene located on chromosome 2.
GPN1 is a small GTPase that is essential for the proper nuclear import of RNA polymerase II (RNAPII). GPN1 may play a role in the assembly of RNAPII prior to its nuclear import. GPN1 acts as an interface between RNAPII and chaperone/scaffolding proteins, suggesting that it is required to connect RNAPII to regulators of protein complex formation. GPN1 may be involved in the nuclear localization of XPA.
GPN1 is also known as ATPBD1A, MBDIN, NTPBP, RPAP4, XAB1.
Associated Diseases
- type 2 diabetes mellitus
- Rh deficiency syndrome
- dehydrated hereditary stomatocytosis
- gluthathione peroxidase deficiency
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- hemoglobin D disease
