CCS

Chr 11

copper chaperone for superoxide dismutase

NCBI Gene: 9973ENSG00000173992UniProt: O14618

Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]

58
ClinVar variants
10
Pathogenic / LP
0.00
pLI score
5
Active trials
Clinical Summary— CCS
🧬
Gene-Disease Validity (ClinGen)
disorder of copper metabolism · UDNo Known Disease Relationship

No known disease relationship

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 45 VUS of 58 total submissions
💊
Clinical Trials
5 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.37LOEUF
pLI 0.000
Z-score 0.53
OE 0.85 (0.54–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.40Z-score
OE missense 0.91 (0.80–1.04)
156 obs / 170.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.85 (0.54–1.37)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.91 (0.80–1.04)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.82
0≤1.21.6
LoF obs/exp: 12 / 14.1Missense obs/exp: 156 / 170.7Syn Z: 1.16

ClinVar Variant Classifications

58 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic2
VUS45
Likely Benign2
Benign1
8
Pathogenic
2
Likely Pathogenic
45
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
2
0
2
VUS
1
38
6
0
45
Likely Benign
0
1
0
1
2
Benign
0
0
0
1
1
Total13916258

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CCS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
📖
GeneReview available — CCS
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Chronic inflammatory demyelinating polyradiculoneuropathy-Diagnostic pitfalls and treatment approach.
Stino AM et al.·Muscle Nerve
2021Review
Mechanism, diagnosis, and treatment of cyclic Cushing's syndrome: A review.
Cai Y et al.·Biomed Pharmacother
2022Review
Prevalence of co-occurring conditions in children and adults with autism spectrum disorder: A systematic review and meta-analysis.
Micai M et al.·Neurosci Biobehav Rev
2023Meta-analysis
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.·Orphanet J Rare Dis
2021Review
Cholesterol crystals in the pathogenesis of atherosclerosis.
Baumer Y et al.·Nat Rev Cardiol
2025Review
Prevalence, predictors and clinical outcome of residual congestion in acute decompensated heart failure.
Rubio-Gracia J et al.·Int J Cardiol
2018
Multiomic analyses uncover immunological signatures in acute and chronic coronary syndromes.
Pekayvaz K et al.·Nat Med
2024
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
Wenger AM et al.·Nat Biotechnol
2019
Cholesterol-embolization syndrome: current perspectives.
Ozkok A·Vasc Health Risk Manag
2019Review
Classifying clinical pathways.
De Bleser L et al.·Stud Health Technol Inform
2004
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Comprehensive IM-MS approach for SARMs detection in urine: building CCS databases to support food safety monitoring.
Joly M et al.·Food Addit Contam Part A Chem Anal Control Expo Risk Assess
2026
CO2-Binder Reaction Mechanisms in Geopolymer Wellbore Cements: Alternatives to API Class G Cement in CO2-Rich Environments (CCS).
Bakri OM et al.·Molecules
2026Functional
A Global High-Resolution Precipitation Climate Record: PERSIANN-CCS-CDR Version 2.0.
Bolboli Zadeh M et al.·Sci Data
2026🔓 Open Access
A validity and reliability study of the care challenge scale (CCS) among turkish caregivers of patients with Alzheimer's disease.
Erten ZK et al.·Geriatr Nurs
2026Cohort
A mixed-methods assessment of individual client-level and clinic-level factors associated with uptake of cervical cancer screening (CCS) services in family planning (FP) clinics receiving an intervention to support these services in Mombasa County, Kenya.
Oyaro B et al.·Implement Sci Commun
2026🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Degenerative SpondylolisthesisLumbar Spinal Stenosis

LimiFlex Clinical Trial for the Treatment of Degenerative Spondylolisthesis With Spinal Stenosis

ACTIVE NOT RECRUITING
NCT03115983Phase NAEmpirical Spine, Inc.Started 2017-07-17
LimiFlexFusion InstrumentationDecompression
Bladder CarcinomaUreter CarcinomaRenal Pelvis Carcinoma

ORACLE: Observation of ResiduAl Cancer With Liquid Biopsy Evaluation

RECRUITING
NCT05059444Guardant Health, Inc.Started 2021-09-07
Guardant Reveal
Brain NeoplasmsLiquid Biopsy

BRAINFUL (BRAIN Tumor Focused Ultrasound-enabled Liquid Biopsy) Trial

ACTIVE NOT RECRUITING
NCT04940507Phase NAUniversity Health Network, TorontoStarted 2021-06-10
Magnetic Resonance Guided Focused Ultrasound Tumor Ablation and Liquid Biopsy AcquisitionMagnetic Resonance Guided Focused Ultrasound Thalamotomy
PCOS (Polycystic Ovary Syndrome)Cumulus CellCapacitation IVM

Transcriptomic Profiling of Cumulus Cells From CAPA-IVM

RECRUITING
NCT07197255Mỹ Đức HospitalStarted 2025-10-16
Refractory AnginaCoronary Artery Disease

Investigational Trial to Evaluate XC001 Delivered Via an Cardiac Catheter in Subjects With Chronic Angina.

RECRUITING
NCT07048808Phase PHASE2XyloCor Therapeutics, Inc.Started 2025-06-24
XC001Sham (No Treatment)

External Resources

Links to major genomics databases and tools