CAT

Chr 11

catalase

NCBI Gene: 847ENSG00000121691UniProt: Q6IB77

Catalase is a key antioxidant enzyme that converts hydrogen peroxide to water and oxygen, protecting cells against oxidative damage in peroxisomes. Mutations cause acatalasemia, which follows autosomal recessive inheritance. This gene is not highly constrained against loss-of-function variants, consistent with acatalasemia typically being a mild condition.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

AcatalasemiaMIM #614097
12
Active trials
8959
Pubs (1 yr)
23
P/LP submissions
0%
P/LP missense
1.05
LOEUF
DN
Mechanism· predicted
Clinical Summary— CAT
🧬
Gene-Disease Validity (ClinGen)
acatalasia · ARModerate

Moderate evidence — consider for supplementary testing

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
23 unique Pathogenic / Likely Pathogenic· 36 VUS of 109 total submissions
💊
Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
📖
GeneReview available — CAT
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.05LOEUF
pLI 0.000
Z-score 1.34
OE 0.72 (0.50–1.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.08Z-score
OE missense 1.01 (0.92–1.11)
316 obs / 312.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.72 (0.50–1.05)
0≤0.351.4
Missense OE1.01 (0.92–1.11)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 19 / 26.4Missense obs/exp: 316 / 312.1Syn Z: -0.35
DN
0.6551th %ile
GOF
0.5072th %ile
LOF
0.3940th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

109 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic1
VUS36
Likely Benign17
Benign12
Conflicting2
22
Pathogenic
1
Likely Pathogenic
36
VUS
17
Likely Benign
12
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
20
0
22
Likely Pathogenic
1
0
0
0
1
VUS
0
27
9
0
36
Likely Benign
0
7
2
8
17
Benign
0
2
4
6
12
Conflicting
—2
Total336351490

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

View in ClinVar →

Protein Context — Lollipop Plot

CAT · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Circadian RhythmEnergy BalanceAppetitive Behavior

Timing and Resistance Exercise: Impact on Eating and Metabolism

NOT YET RECRUITING
NCT06549322Phase NANational Taiwan Normal UniversityStarted 2024-09-01
The exercise in morningThe exercise in evening
Anatomic Stage IV Breast Cancer AJCC v8Invasive Breast CarcinomaMetastatic Breast Adenocarcinoma

A Vaccine (MV-s-NAP) for the Treatment of Patients With Invasive Metastatic Breast Cancer

RECRUITING
NCT04521764Phase PHASE1Mayo ClinicStarted 2020-09-23
Oncolytic Measles Virus Encoding Helicobacter pylori Neutrophil-activating ProteinComputed TomographyMagnetic Resonance Imaging
Advanced Lung Non-Small Cell CarcinomaMetastatic Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Telaglenastat Hydrochloride and Osimertinib in Treating Patients With EGFR-Mutated Stage IV Non-small Cell Lung Cancer

ACTIVE NOT RECRUITING
NCT03831932Phase PHASE1, PHASE2National Cancer Institute (NCI)Started 2020-03-16
Biospecimen CollectionComputed TomographyMagnetic Resonance Elastography
Fallopian Tube CarcinomaFallopian Tube Endometrioid AdenocarcinomaFallopian Tube Serous Adenocarcinoma

Testing the Combination of the Study Drugs Cediranib and Olaparib in Recurrent Ovarian Cancer

ACTIVE NOT RECRUITING
NCT02345265Phase PHASE2National Cancer Institute (NCI)Started 2016-05-23
Biopsy ProcedureBiospecimen CollectionCediranib Maleate
Castration-Resistant Prostate CarcinomaMetastatic Prostate CarcinomaStage IVB Prostate Cancer AJCC v8

PSCA-Targeting CAR-T Cells Plus or Minus Radiation for the Treatment of Patients With PSCA+ Metastatic Castration-Resistant Prostate Cancer

RECRUITING
NCT05805371Phase PHASE1City of Hope Medical CenterStarted 2024-07-19
Autologous Anti-PSCA-CAR-4-1BB/TCRzeta-CD19t-expressing T-lymphocytesBiopsyBiospecimen Collection
Neurodevelopmental DisordersIntellectual DisabilityDevelopmental Delay

Longitudinal Study of Neurogenetic Disorders

RECRUITING
NCT03492060Columbia UniversityStarted 2018-06-13
Impaired Glucose RegulationImpaired Glucose Tolerance (Prediabetes)Prediabetes (Insulin Resistance, Impaired Glucose Tolerance)

Probiotic Impact on Cognitive Performance, and Metabolic Outcomes in Overweight Young Adults With Impaired Glucose Regulation

RECRUITING
NCT07073781Phase NALeeds Beckett UniversityStarted 2025-08-15
Lab4p Probiotic ConsortiumPlacebo
Locally Advanced Pancreatic AdenocarcinomaStage III Pancreatic Cancer AJCC v8

Testing the Addition of a New Anti-cancer Drug, M3814 (Peposertib), to the Usual Radiotherapy in Patients With Locally Advanced Pancreatic Cancer

RECRUITING
NCT04172532Phase PHASE1, PHASE2National Cancer Institute (NCI)Started 2021-01-11
Biopsy ProcedureBiospecimen CollectionComputed Tomography
Thyroid Gland Follicular CarcinomaThyroid Gland Oncocytic CarcinomaThyroid Gland Papillary Carcinoma

Vemurafenib and Cobimetinib for the Treatment of Patients With High Risk Differentiated Thyroid Carcinoma With BRAFV600E Mutation

RECRUITING
NCT06440850Phase PHASE2City of Hope Medical CenterStarted 2024-07-15
Biospecimen CollectionCobimetinibComputed Tomography
LAMA2-related Muscular DystrophySELENON-related Myopathy

A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy.

RECRUITING
NCT06132750Radboud University Medical CenterStarted 2023-10-06
No intervention
ObesityHealthy Volunteers

Physical and Behavioral Traits of Overweight and Obese Adults

RECRUITING
NCT00428987National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)Started 2007-03-08
Metastatic Endometrial CarcinomaRecurrent Endometrial AdenocarcinomaRecurrent Endometrial Carcinoma

VSV-hIFNbeta-NIS With or Without Ruxolitinib Phosphate in Treating Stage IV or Recurrent Endometrial Cancer

ACTIVE NOT RECRUITING
NCT03120624Phase PHASE1Mayo ClinicStarted 2017-09-15
BiopsyComputed TomographyFluorine F 18 Tetrafluoroborate
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Transformation of tetranuclear [{MoO3(Lcat)Cu}2]2- into trinuclear [MoO2(Lcat)2Cu2] and possible implications for the formation of Bis(MPT)Mo by MobA.
Chandima AMB et al.·Chem Commun (Camb)
2026
Self-assembly of the domestic cat hepadnavirus core antigen (DCHcAg) into virus-like particles (VLPs).
Li J et al.·Virology
2026
Diffuse alveolar damage, acute respiratory distress syndrome (ARDS), and non-cardiogenic pulmonary edema (NCPE). Part 2: NCPE apart from ARDS, molecular and cellular consequences of primary injury to the lung interstitium, with comparative immunology of the dog and cat.
Wong HE et al.·J Vet Diagn Invest
2026Open Access
Towards equitable and immersive outdoor orienteering: An artificial intelligence-driven multi-objective route planning framework with augmented sand cat swarm optimization.
Lun Q et al.·PLoS One
2026Open Access
Unlocking an Efficient SOD-to-CAT Catalytic Relay in a MOF Nanozyme via Dopamine-Driven Interfacial Nanoreconstruction for Osteoarthritis Therapy.
Li Z et al.·Adv Mater
2026
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients