8fds | pdb_00008fds
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Structural highlights
DiseaseCLPB_HUMAN 3-methylglutaconic aciduria type 7;Autosomal dominant severe congenital neutropenia. The disease is caused by variants affecting the gene represented in this entry. FunctionCLPB_HUMAN May function as a regulatory ATPase and be related to secretion/protein trafficking process. Involved in mitochondrial-mediated antiviral innate immunity, activates RIG-I-mediated signal transduction and production of IFNB1 and pro-inflammatory cytokine IL6 (PubMed:31522117).[1] References
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This page was last modified 10:32, 25 October 2023.