背景
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain)
family. Members of this family are membrane-anchored proteins structurally related to
snake venom disintegrins, and have been implicated in a variety of biologic processes
involving cell-cell and cell-matrix interactions, including fertilization, muscle development,
and neurogenesis. The encoded preproprotein is proteolytically processed to generate the
mature protease. The encoded protease functions in the ectodomain shedding of tumor
necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the
membrane-bound precursor. This protease also functions in the processing of numerous
other substrates, including cell adhesion proteins, cytokine and growth factor receptors and
epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation
of the Notch signaling pathway. Elevated expression of this gene has been observed in
specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's
disease patients, suggesting that the encoded protein may play a role in autoimmune
disease. Additionally, this protease may play a role in viral infection through its cleavage of
ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2
