Curated summary · agent-written · kb/genes/curated/hgnc_10603.md

All 11 claims checked against the KB draft

SCO1 across dismech

SCO1 (synthesis of cytochrome C oxidase 1) is named by 1 disorder entry.

Normal function

SCO1 is an inner-membrane copper metallochaperone that delivers copper to the CuA site of MT-CO2. It is an assembly factor, not a Complex IV subunit, and has no cytochrome-c oxidase activity. ai-gene-review gives its core molecular function as copper chaperone activity, acting in mitochondrial respiratory chain complex IV assembly.

Causative records

SCO1-Related COX Deficiency types SCO1 as causative with germline variants. The gene sits on SCO1 Loss and Defective Copper Delivery to COX, which conforms to complex_iv_assembly_deficiency.

Where the layers agree and disagree

The KB and ai-gene-review share mitochondrial respiratory chain complex IV assembly. The KB node also carries copper ion transport; and mitochondrial respiratory chain complex IV assembly, where ai-gene-review records the copper step as a molecular function rather than a transport process. ClinGen's SCO1 classification is for mitochondrial disease, which has no matching dismech entry.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (O75880, commit 79fe13b38970) · AI-generated, not KB evidence

SCO1 is an inner mitochondrial membrane copper metallochaperone required for maturation of the CuA site of cytochrome c oxidase subunit II (MT-CO2/COX2). Together with SCO2 and other COX2-module factors, SCO1 participates in the mitochondrial copper relay that enables Complex IV assembly. SCO2 appears to act upstream as a thiol-disulfide oxidoreductase affecting the redox state of SCO1's copper-coordinating cysteines, whereas SCO1 is best treated as the copper-handling/metallochaperone step for COX2 CuA-site maturation. SCO1 is an assembly factor rather than a structural subunit of mature Complex IV. It also has a secondary role in cellular copper homeostasis, including regulation of CTR1 abundance/localization. Pathogenic variants cause mitochondrial Complex IV deficiency, nuclear type 4.

SCO1 is a mitochondrial copper chaperone/assembly factor that helps deliver copper to the CuA site of MT-CO2 during Complex IV biogenesis. Its core function is not mature Complex IV catalysis, but copper handling within the COX2 maturation pathway. Evidence from SCO1 and SCO2 patient-cell studies supports distinct, stage-specific roles: SCO2 acts upstream in CO II synthesis/redox control, while SCO1 is required for the copper-dependent maturation step.

molecular function: copper chaperone activity · directly involved in: mitochondrial respiratory chain complex IV assembly · locations: mitochondrial inner membrane

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
SCO1-Related COX Deficiency	causative germline	mechanism: SCO1 Loss and Defective Copper Delivery to COX

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
mitochondrial disease MONDO:0044970	AR	Definitive 2022-02-17	no dismech entry

Mechanism modules · computed from kb/

complex_iv_assembly_deficiency via SCO1-Related COX Deficiency