RAPGEF5
Description
The RAPGEF5 (Rap guanine nucleotide exchange factor 5) is a protein-coding gene located on chromosome 7.
RAPGEF5, a human protein encoded by the RAPGEF5 gene, is a member of the RAS subfamily of GTPases. These GTPases play a crucial role in signal transduction, acting as molecular switches that cycle between an inactive GDP-bound state and an active GTP-bound state.
RAPGEF5 acts as a guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A, and MRAS/M-Ras-GTP. Interestingly, its association with MRAS leads to the inhibition of Rap1 activation.
RAPGEF5 is also known as GFR, MR-GEF, MRGEF, REPAC.
Associated Diseases
- dilated cardiomyopathy 1A
- respiratory tract infectious disorder
- familial male-limited precocious puberty
- 46,XX testicular disorder of sex development
- spermatogenic failure, X-linked, 2
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome
