8snm

Structural highlights

Disease

RHDF2_HUMAN Palmoplantar keratoderma-esophageal carcinoma syndrome. The disease is caused by variants affecting the gene represented in this entry.

Function

RHDF2_HUMAN Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own.[UniProtKB:Q80WQ6]