RHBDL2
Description
The RHBDL2 (rhomboid like 2) is a protein-coding gene located on chromosome 1.
Rhomboid-related protein 2 is a protein that in humans is encoded by the RHBDL2 gene. The protein encoded by this gene is a member of the rhomboid protease family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid-1. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. RHBDL2 functions as a sheddase and is localized to the plasma membrane. Known substrates of RHBDL2 include thrombomodulin and epidermal growth factor; profiling of the substrate repertoire of RHBDL2 has identified a number of additional type I membrane proteins substrates, including BCAM, SPINT1, and CLCP1.
Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3. [ECO:0000269|PubMed:11672525, ECO:0000269|PubMed:15047175]
RHBDL2 is also known as RRP2.
Associated Diseases
- cancer
- pachyonychia congenita
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- primary familial polycythemia due to EPO receptor mutation
