Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.9.3.1 (
cytochrome oxidase
)
8,822
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Assembly factors play key roles in the biogenesis of many multi-subunit protein complexes regulating their stability, activity, and the incorporation of essential cofactors. The human assembly factor Coa6 participates in the biogenesis of the Cu
A
site in
complex IV
(cytochrome
c
oxidase, COX). Patients with mutations in Coa6 suffer from mitochondrial disease due to
complex IV
deficiency. Here, we present the crystal structures of human Coa6 and the pathogenic
W59C
Coa6-mutant protein. These structures show that Coa6 has a 3-helical bundle structure, with the first 2 helices tethered by disulfide bonds, one of which likely provides the copper-binding site. Disulfide-mediated oligomerization of the
W59C
Coa6 protein provides a structural explanation for the loss-of-function mutation.
Life Sci
Alliance
2019 10
PMID:Structural and functional characterization of the mitochondrial complex IV assembly factor Coa6. 3151 91
