7tts | pdb_00007tts
From Proteopedia
Skd3, hexamer, filtered
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Structural highlights
Disease[CLPB_HUMAN] 3-methylglutaconic aciduria type 7;Autosomal dominant severe congenital neutropenia. The disease is caused by variants affecting the gene represented in this entry. Function[CLPB_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 06:15, 28 September 2022.