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



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.