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Functional understanding of the versatile protein copper metabolism MURR1 domain 1 (COMMD1) in copper homeostasis
Author(s) -
Fedoseienko Alina,
Bartuzi Paulina,
Sluis Bart
Publication year - 2014
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/nyas.12353
Subject(s) - copper , homeostasis , copper toxicity , menkes disease , gene knockout , copper metabolism , mechanism (biology) , biology , cofactor , chemistry , microbiology and biotechnology , toxicity , gene , biochemistry , enzyme , philosophy , organic chemistry , epistemology
Copper is an important cofactor in numerous biological processes in all living organisms. However, excessive copper can be extremely toxic, so it is vital that the copper level within a cell is tightly regulated. The damaging effect of copper is seen in several hereditary forms of copper toxicity in humans and animals. At present, Wilson's disease is the best‐described and best‐studied copper‐storage disorder in humans; it is caused by mutations in the ATP7B gene. In dogs, a mutation in the COMMD1 gene has been found to be associated with copper toxicosis. Using a liver‐specific Commd1 knockout mouse, the biological role of Commd1 in copper homeostasis has been confirmed. Yet, the exact mechanism by which COMMD1 regulates copper homeostasis is still unknown. Here, we give an overview of the current knowledge and perspectives on the molecular function of COMMD1 in copper homeostasis.