CAT: Catalase Gene

Key antioxidant enzyme gene involved in hydrogen peroxide degradation and associated with acatalasemia and oxidative stress-related disorders

Gene Information Card

Symbol CAT
Full Name Catalase
Gene Type Protein-coding
Chromosomal Location 11p13
NCBI Gene ID 847 ncbi.nlm.nih.gov/gene/847
Ensembl ID ENSG00000121691
UniProt ID P04040
OMIM ID 115500
HGNC ID 1516
Aliases CAT, MGC138422, MGC138424

Description

The CAT gene encodes catalase, a heme-containing enzyme that catalyzes the decomposition of hydrogen peroxide to water and oxygen, protecting cells from oxidative damage. It is located on chromosome 11p13 and is expressed in nearly all tissues, with highest levels in liver, kidney, and erythrocytes. Mutations in CAT cause acatalasemia (Takahara disease), a condition characterized by reduced catalase activity and increased susceptibility to oxidative stress.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Acatalasemia Loss-of-function mutations in CAT reduce catalase activity, leading to accumulation of hydrogen peroxide and tissue damage, particularly in oral mucosa and erythrocytes. OMIM #115500; multiple reports of homozygous or compound heterozygous mutations
Diabetes mellitus type 2 Reduced catalase activity contributes to oxidative stress and insulin resistance; polymorphisms in CAT are associated with increased risk. ClinVar; GWAS studies
Hypertension Oxidative stress from impaired catalase function may contribute to vascular damage and elevated blood pressure. ClinVar; case-control studies
Alzheimer disease Oxidative stress and reduced catalase activity in brain tissues are implicated in neurodegeneration. NCBI Gene; literature review

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 123.4 High
Kidney 98.2 High
Erythrocytes 85.6 High
Lung 45.3 Medium
Heart 32.1 Medium
Brain 12.8 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 150.2 Hepatocellular carcinoma cell line; high expression
HEK293 78.5 Embryonic kidney cells; moderate expression
K562 55.3 Chronic myelogenous leukemia; moderate expression
A549 40.1 Lung carcinoma; moderate expression
MCF7 22.4 Breast cancer; low expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.111C>T (p.Gln37Ter) Nonsense <0.1% Loss of function; associated with acatalasemia
c.5C>T (p.Pro2Leu) Missense <0.1% Reduced enzyme activity; reported in acatalasemia
c.67A>G (p.Asn23Asp) Missense <0.1% Decreased catalase activity; found in Japanese acatalasemia patients
c.127G>A (p.Glu43Lys) Missense <0.1% Impaired heme binding; loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense and missense mutations that reduce or abolish catalase activity, leading to acatalasemia and increased oxidative stress.

Gain of Function (GOF)

No gain-of-function mutations reported for CAT.

Dominant Negative (DN)

No dominant-negative mutations reported; acatalasemia is typically recessive.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/847
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CAT

Gene Ontology (GO)

• catalase activity (GO:0004096) • heme binding (GO:0020037)
• hydrogen peroxide catabolic process (GO:0042744) • response to oxidative stress (GO:0006979)
• mitochondrion (GO:0005739) • peroxisome (GO:0005777)

Pathways

• Reactome: Detoxification of Reactive Oxygen Species (R-HSA-3299685)
• KEGG: Peroxisome (hsa04146)
• KEGG: Tryptophan metabolism (hsa00380)

Protein Summary

Catalase is a homotetrameric heme-containing enzyme of approximately 240 kDa. It is primarily localized in peroxisomes and mitochondria, where it catalyzes the conversion of hydrogen peroxide to water and oxygen, a critical step in cellular antioxidant defense. The protein consists of four identical subunits, each containing a heme group and NADPH binding site. Catalase is highly expressed in liver and erythrocytes, and its deficiency leads to acatalasemia, characterized by oral ulcers and gangrene. Post-translational modifications include glycosylation and phosphorylation, which modulate activity.

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Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/847
OMIM https://www.omim.org/entry/115500
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1516
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121691
UniProt https://www.uniprot.org/uniprot/P04040
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=CAT%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CAT
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