CAT

Summary

CAT (catalase, HGNC:1516) is a protein-coding gene on chromosome 11p13, encoding Catalase (P04040). Catalyzes the degradation of hydrogen peroxide (H(2)O(2)) generated by peroxisomal oxidases to water and oxygen, thereby protecting cells from the toxic effects of hydrogen peroxide.

This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer’s disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene.

Source: NCBI Gene 847 — RefSeq curated summary.

At a glance

• Gene–disease (curated): acatalasia (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 84 total — 3 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 18
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_001752

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1516
Approved symbol	CAT
Name	catalase
Location	11p13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000121691
Ensembl biotype	protein_coding
OMIM	115500
Entrez	847

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 15 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000241052, ENST00000525707, ENST00000528104, ENST00000530343, ENST00000534710, ENST00000650153, ENST00000856101, ENST00000856102, ENST00000856103, ENST00000856104, ENST00000856105, ENST00000856106, ENST00000856107, ENST00000856108, ENST00000856109, ENST00000856110, ENST00000929641, ENST00000955131, ENST00000955132, ENST00000955133

RefSeq mRNA: 1 — MANE Select: NM_001752 NM_001752

CCDS: CCDS7891

Canonical transcript exons

ENST00000241052 — 13 exons

Exon	Start	End
ENSE00000824423	34449192	34449363
ENSE00000824424	34450988	34451098
ENSE00000824425	34452077	34452207
ENSE00000824426	34453090	34453194
ENSE00000824427	34453801	34453926
ENSE00000824428	34456011	34456202
ENSE00000824429	34456665	34456817
ENSE00000824430	34461251	34461389
ENSE00000824432	34468288	34468395
ENSE00000824433	34470958	34471041
ENSE00001004250	34471368	34472060
ENSE00003589736	34464105	34464235
ENSE00003839429	34438934	34439079

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 99.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 73.9692 / max 3230.0332, expressed in 1673 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113722	73.9692	1673

Top tissues by expression

300 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	99.67	gold quality
nephron tubule	UBERON:0001231	99.35	gold quality
renal medulla	UBERON:0000362	99.30	gold quality
jejunal mucosa	UBERON:0000399	99.24	gold quality
liver	UBERON:0002107	99.12	gold quality
bone marrow	UBERON:0002371	98.96	gold quality
right lobe of liver	UBERON:0001114	98.91	gold quality
ileal mucosa	UBERON:0000331	98.89	gold quality
bone element	UBERON:0001474	98.89	gold quality
skin of hip	UBERON:0001554	98.80	gold quality
upper leg skin	UBERON:0004262	98.78	gold quality
duodenum	UBERON:0002114	98.77	gold quality
jejunum	UBERON:0002115	98.77	gold quality
kidney epithelium	UBERON:0004819	98.71	gold quality
bronchial epithelial cell	CL:0002328	98.50	gold quality
adipose tissue	UBERON:0001013	98.49	gold quality
mammary duct	UBERON:0001765	98.46	gold quality
right adrenal gland cortex	UBERON:0035827	98.40	gold quality
adult mammalian kidney	UBERON:0000082	98.37	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.36	gold quality
kidney	UBERON:0002113	98.35	gold quality
upper arm skin	UBERON:0004263	98.31	gold quality
adult organism	UBERON:0007023	98.31	gold quality
thoracic mammary gland	UBERON:0005200	98.30	gold quality
connective tissue	UBERON:0002384	98.28	gold quality
mammary gland	UBERON:0001911	98.24	gold quality
right adrenal gland	UBERON:0001233	98.22	gold quality
subcutaneous adipose tissue	UBERON:0002190	98.22	gold quality
pericardium	UBERON:0002407	98.18	gold quality
lower lobe of lung	UBERON:0008949	98.18	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	172.27
E-CURD-112	yes	59.71
E-MTAB-10042	yes	41.26
E-MTAB-6701	yes	21.79
E-CURD-88	yes	20.76
E-CURD-46	yes	16.21
E-HCAD-1	yes	14.64
E-CURD-122	yes	12.85
E-MTAB-9388	yes	8.24
E-HCAD-9	yes	7.31
E-HCAD-10	no	2.10
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, AP1, APEX1, AR, ARNT, ATF1, BTG2, CEBPB, CEBPG, CREB1, DDIT3, DIDO1, DNMT1, E2F1, EGR1, EGR2, EGR3, ELF1, ERG, ESR1, ESR2, ETS1, ETS2, ETV1, ETV3, FOS, FOXM1, FOXO1, FOXO3, FOXP3, GATA1, GTF3A, HAND2, HNF1A, HNF4A, HOXA11, HOXA7, HR, IRF1, IRF2

miRNA regulators (miRDB)

46 targeting CAT, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-190A-5P	99.54	71.45	933
HSA-MIR-190B-5P	99.54	71.40	925
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-508-5P	99.41	64.25	1248

Literature-anchored findings (GeneRIF, showing 40)

• expression of catalase either in the cytosol or mitochondrial compartments was able to abolish the loss of mitochondrial membrane potential or damage to mitochondria observed in HepG2 cells overexpressing CYP2E1 (PMID:11907164)
• results suggest that IGF-1/PI-3 kinase inhibited C2-ceramide-induced apoptosis due to relieving oxidative damage, which resulted from the inhibition of catalase by activated caspase-3 (PMID:12032677)
• catalase in livers enhances drug oxidation activities catalyzed by P450 in human liver microsomes. (PMID:12110367)
• The results confirm the involvement of antioxidant enzymes, including catalase, in the pathogenesis of psoriasis. (PMID:12165738)
• Abnormal expression of catalase in the eutopic and ectopic endometrium strongly suggests pathologic involvement of free radicals in endometriosis and adenomyosis (PMID:12372460)
• Malignant lung tumors (squamous cell carcinoma and adenocarcinoma) had significantly decreased levels of this enzyme. (PMID:12447480)
• the level of catalase may play a critical role in cell-induced resistance to the effects of anti-cancer drugs which up-regulate p53 (PMID:12468545)
• cell signaling molecules regulate catalase to control cell mitogenesis (PMID:12487379)
• activities of catalase (CAT), glutathione reductase (GR), glutathione peroxidase (GPx) and superoxide dismutase (SOD) were decreased during intense physical exercise (PMID:12516882)
• conclude that sun exposure results in a disturbed catalase to superoxide dismutase ratio in the stratum corneum (PMID:12603857)
• results suggest that high glucose flux through aldose reductase inhibits the expression of catalase, CuZn superoxide-dismutase and glutathione peroxidase (PMID:12606529)
• data indicate that catalase plays a direct role in generating oxidants in response to UVB light (PMID:12730222)
• Catalase activity in pulmonary diseases was suppressed by 38-45%. (PMID:12838770)
• findings indicate that, in addition to stimulating catalase activity, c-Abl and Arg promote catalase degradation in the oxidative stress response (PMID:12950161)
• effect of IGFBP-2 overexpression on the activity of catalas in two malignant cell lines (PMID:14710363)
• High catalase activity in human alveolar macrophages limits the effectiveness of H2O2 to act as a mediator of inflammatory gene expression. (PMID:14962975)
• findings support evidence of a new putative type 1 diabetes susceptibility locus for the catalase gene on chromosome 11p13 (PMID:15133753)
• catalase (447)Tyr-Val-Asn-Val binds Grb2 upon phosphorylation in tumor cells when stimulated with serum or ligands for integrin receptors (PMID:15182856)
• catalase and hepatocyte growth factor have roles in ceramide-induced apoptosis (PMID:15203188)
• overexpression of human catalase in DF-1 cells endowed cells resistant to the oxidative stress by antimycin A treatment (PMID:15528999)
• SHP2 binds CAT and acquires a hydrogen peroxide-resistant phosphatase activity via integrin-signaling. (PMID:15556604)
• catalase activates the growth of HL60 cells through dismutation of H(2)O(2), leading to activation of the ERK1/2 pathway; H(2)O(2) is an important regulator of growth in HL60 cells (PMID:15733034)
• Genetic variations in the promoter region of catalase gene influence the susceptibility to essential hypertension. (PMID:15735318)
• The novel G–>A mutation in exon 9 changes the essential amino acid Arg 354 to Cys 354 and may be responsible for the decreased catalase activity causing diabetes mellitus. (PMID:15800961)
• Adenovirus-mediated gene transfer of superoxide dismutase and catalase reduced oxidative stress, restenosis, collagen accumulation, and inflammation and improved endothelial function after angioplasty. (PMID:15870505)
• Genetic polymorphisms of CAT and PPARy2 do not play a significant role in the development of SLE in a Korean population. (PMID:15934434)
• genetic polymorphisms of CAT do not play a significant role in the susceptibility to RA in Koreans (PMID:15988600)
• catalase activities in healthy persons (PMID:16026777)
• the accumulation of reactive oxygen species due to catalase attenuation may be a critical aspect of the MAP kinase signaling changes that may lead to skin aging and photoaging in human skin in vivo (PMID:16098030)
• The high-activity catalase CC genotype was associated with an overall 17% reduction in risk of breast cancer compared with having at least one variant T allele. (PMID:16192345)
• catalase has a critical role in CSF-independent survival of human macrophages via regulation of the expression of BCL-2 and BCL-XL (PMID:16204228)
• Cells were exposed to 250 microM hydrogen peroxide and and cell survival, mitochondria transfection with catalase function, were examined. (PMID:16387755)
• No evidence for a major effect of C1167T or C(-262)T sinsgle nucleotide polymorphism on type 1 diabetes mellitus susceptibility in two large sample collections. (PMID:16453382)
• Catalase activity may correlate with the concentration of hypoxanthine in the graft renal vein and other mediators of oxidative stress. (PMID:16504657)
• protective role of the -262T allele of the CAT gene against the rapid development of diabetic nepheropathy. (PMID:16523188)
• Catalase in human enzyme transfected mice rescues insulin-resistance-induced cardiac dysfunction related to ROS production and protein oxidation but probably does not improve insulin sensitivity. (PMID:16586065)
• overexpression of Cu, Zn-SOD and/or catalase in smooth muscle cells attenuates the cell proliferation caused by oxLDL stimulation (PMID:16600249)
• catalase overexpression has a protective role against Ultraviolet B irradiation by preventing DNA damage mediated by the late reactive oxygen species increase. (PMID:16644728)
• The C/T genotype was significantly over-represented in the vitiligo patient group compared with the control cohort. (PMID:16729966)
• A statistically significant higher malondialdehyde concentration in erythrocytes and blood plasma and a higher activity of SOD or CAT in erythrocytes was shown in patients with a brain tumour. (PMID:16773213)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	cat	ENSDARG00000104702
mus_musculus	Cat	ENSMUSG00000027187
rattus_norvegicus	Cat	ENSRNOG00000008364
drosophila_melanogaster	Cat	FBGN0000261
drosophila_melanogaster	CatB	FBGN0032061
caenorhabditis_elegans		WBGENE00000830
caenorhabditis_elegans		WBGENE00000831
caenorhabditis_elegans		WBGENE00013220

Protein

Protein identifiers

Catalase — P04040 (reviewed: P04040)

All UniProt accessions (3): A0A384P5Q0, A0A3B3ITJ0, P04040

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the degradation of hydrogen peroxide (H(2)O(2)) generated by peroxisomal oxidases to water and oxygen, thereby protecting cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells.

Subunit / interactions. Homotetramer. Interacts (via microbody targeting signal) with PEX5, monomeric form interacts with PEX5, leading to its translocation into peroxisomes.

Subcellular location. Peroxisome matrix.

Disease relevance. Acatalasemia (ACATLAS) [MIM:614097] A metabolic disorder characterized by a total or near total loss of catalase activity in red cells. It is often associated with ulcerating oral lesions. Acatalasemia is inherited as an autosomal recessive trait. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the catalase family.

RefSeq proteins (1): NP_001743* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002226	Catalase_haem_BS	Binding_site
IPR010582	Catalase_immune_responsive	Domain
IPR011614	Catalase_core	Domain
IPR018028	Catalase	Family
IPR020835	Catalase_sf	Homologous_superfamily
IPR024708	Catalase_AS	Active_site
IPR024711	Catalase_clade1/3	Family
IPR040333	Catalase_3	Family

Pfam: PF00199, PF06628

Enzyme classification (BRENDA):

• EC 1.11.1.6 — catalase (BRENDA: 143 organisms, 100 substrates, 244 inhibitors, 97 Km, 45 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
H2O2	0.025–1722	92
METHANOL	83	1
O-DIANISIDINE	0.048	1

Catalyzed reactions (Rhea), 1 shown:

• 2 H2O2 = O2 + 2 H2O (RHEA:20309)

UniProt features (88 total): helix 21, strand 20, modified residue 14, binding site 9, sequence conflict 9, turn 7, mutagenesis site 3, active site 2, initiator methionine 1, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

17 structures.

PDB	Method	Resolution (Å)
1DGF	X-RAY DIFFRACTION	1.5
1DGG	X-RAY DIFFRACTION	1.8
9T0K	ELECTRON MICROSCOPY	1.87
1DGH	X-RAY DIFFRACTION	2
1DGB	X-RAY DIFFRACTION	2.2
7P8W	ELECTRON MICROSCOPY	2.2
8HID	X-RAY DIFFRACTION	2.2
8EL9	ELECTRON MICROSCOPY	2.27
7VD9	ELECTRON MICROSCOPY	2.29
1F4J	X-RAY DIFFRACTION	2.4
8WZK	ELECTRON MICROSCOPY	2.4
8SGV	ELECTRON MICROSCOPY	2.58
8WZJ	ELECTRON MICROSCOPY	2.7
8WZM	ELECTRON MICROSCOPY	2.7
1QQW	X-RAY DIFFRACTION	2.75
8PVD	ELECTRON MICROSCOPY	3.4
8WZH	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P04040-F1	95.97	0.95

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 75; 148

Ligand- & substrate-binding residues (9): 303; 305; 306; 358 (axial binding residue); 194; 201; 203; 213; 237

Post-translational modifications (14): 2, 9, 221, 233, 306, 306, 417, 422, 480, 480, 499, 511, 515, 517

Mutagenesis-validated functional residues (3):

Position	Phenotype
517–519	does not affect localization to peroxisomes.
524–527	abolished localization to peroxisomes.
526	abolished localization to peroxisomes.

Function

Pathways and Gene Ontology

Reactome pathways

15 pathways

ID	Pathway
R-HSA-3299685	Detoxification of Reactive Oxygen Species
R-HSA-6798695	Neutrophil degranulation
R-HSA-9033241	Peroxisomal protein import
R-HSA-9615017	FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
R-HSA-9841251	Mitochondrial unfolded protein response (UPRmt)
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-212436	Generic Transcription Pathway
R-HSA-2262752	Cellular responses to stress
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8953897	Cellular responses to stimuli
R-HSA-9609507	Protein localization
R-HSA-9614085	FOXO-mediated transcription
R-HSA-9711123	Cellular response to chemical stress

MSigDB gene sets: 410 (showing top): GOBP_HEMOGLOBIN_METABOLIC_PROCESS, MODULE_93, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_ETHANOL, GOBP_EPITHELIUM_DEVELOPMENT, MULLIGHAN_NPM1_SIGNATURE_3_UP, HORIUCHI_WTAP_TARGETS_DN, REACTOME_INNATE_IMMUNE_SYSTEM, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_RESPONSE_TO_ESTRADIOL, GOCC_SECRETORY_GRANULE, GOBP_HYDROGEN_PEROXIDE_CATABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_OSTEOBLAST_DIFFERENTIATION

GO Biological Process (38): response to reactive oxygen species (GO:0000302), osteoblast differentiation (GO:0001649), ureteric bud development (GO:0001657), response to hypoxia (GO:0001666), triglyceride metabolic process (GO:0006641), cholesterol metabolic process (GO:0008203), aerobic respiration (GO:0009060), response to xenobiotic stimulus (GO:0009410), response to light intensity (GO:0009642), UV protection (GO:0009650), response to ozone (GO:0010193), response to lead ion (GO:0010288), response to activity (GO:0014823), response to inactivity (GO:0014854), hemoglobin metabolic process (GO:0020027), response to estradiol (GO:0032355), response to insulin (GO:0032868), response to vitamin A (GO:0033189), response to vitamin E (GO:0033197), response to L-ascorbic acid (GO:0033591), response to hydrogen peroxide (GO:0042542), hydrogen peroxide catabolic process (GO:0042744), negative regulation of apoptotic process (GO:0043066), response to ethanol (GO:0045471), response to cadmium ion (GO:0046686), positive regulation of cell division (GO:0051781), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), response to hyperoxia (GO:0055093), cellular detoxification of hydrogen peroxide (GO:0061692), response to fatty acid (GO:0070542), cellular response to growth factor stimulus (GO:0071363), response to amitrole (GO:0072722), response to phenylpropanoid (GO:0080184), kidney development (GO:0001822), response to oxidative stress (GO:0006979), response to UV (GO:0009411), response to toxic substance (GO:0009636), cellular oxidant detoxification (GO:0098869)

GO Molecular Function (12): aminoacylase activity (GO:0004046), catalase activity (GO:0004096), antioxidant activity (GO:0016209), oxidoreductase activity, acting on peroxide as acceptor (GO:0016684), enzyme binding (GO:0019899), heme binding (GO:0020037), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), metal ion binding (GO:0046872), NADP binding (GO:0050661), peroxidase activity (GO:0004601), oxidoreductase activity (GO:0016491)

GO Cellular Component (15): extracellular region (GO:0005576), cytoplasm (GO:0005737), mitochondrion (GO:0005739), peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), peroxisomal matrix (GO:0005782), cytosol (GO:0005829), focal adhesion (GO:0005925), membrane (GO:0016020), protein-containing complex (GO:0032991), secretory granule lumen (GO:0034774), catalase complex (GO:0062151), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Cellular responses to stress	2
Cellular response to chemical stress	1
Innate Immune System	1
Protein localization	1
FOXO-mediated transcription	1
Immune System	1
RNA Polymerase II Transcription	1
Cellular responses to stimuli	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
response to oxygen-containing compound	3
response to vitamin	3
response to stimulus	2
response to lipid	2
protein binding	2
cytoplasm	2
peroxisome	2
response to oxidative stress	1
ossification	1
cell differentiation	1
mesonephric tubule development	1
response to stress	1
response to decreased oxygen levels	1
acylglycerol metabolic process	1
sterol metabolic process	1
secondary alcohol metabolic process	1
cellular respiration	1
response to chemical	1
response to light stimulus	1
response to UV	1
response to reactive oxygen species	1
response to metal ion	1
protein metabolic process	1
response to peptide hormone	1
response to monosaccharide	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	1
peroxidase activity	1
molecular_function	1
cellular oxidant detoxification	1
oxidoreductase activity	1
tetrapyrrole binding	1
identical protein binding	1
protein dimerization activity	1
cation binding	1
adenyl nucleotide binding	1
antioxidant activity	1
oxidoreductase activity, acting on peroxide as acceptor	1
catalytic activity	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

3418 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CAT	GSR	P00390	537
CAT	GPX8	Q8TED1	498
CAT	GPX7	Q96SL4	496
CAT	AOX1	Q06278	457
CAT	APEX1	P27695	450
CAT	ALDH18A1	P54886	447
CAT	SOD1	P00441	425
CAT	GPX5	O75715	421
CAT	GPX6	P59796	421
CAT	GPX2	P18283	415
CAT	GPX3	P22352	413
CAT	XDH	P47989	393
CAT	MANBA	O00462	392
CAT	GPX4	P36969	390
CAT	CS	O75390	377

IntAct

72 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CAT	CAT	psi-mi:“MI:0915”(physical association)	0.590
CAT	TYSND1	psi-mi:“MI:0403”(colocalization)	0.550
CAT	PTPN11	psi-mi:“MI:0407”(direct interaction)	0.540
PTPN11	CAT	psi-mi:“MI:0915”(physical association)	0.540
CAT	PTPN11	psi-mi:“MI:0915”(physical association)	0.540
APP	CAT	psi-mi:“MI:0407”(direct interaction)	0.440
CAT	APP	psi-mi:“MI:0407”(direct interaction)	0.440
CAT	NUDT19	psi-mi:“MI:0914”(association)	0.420
LACC1	CAT	psi-mi:“MI:0403”(colocalization)	0.380
LACC1	CAT	psi-mi:“MI:2364”(proximity)	0.380
CAT	PCNA	psi-mi:“MI:0915”(physical association)	0.370
KEAP1	CAT	psi-mi:“MI:0915”(physical association)	0.370
	CAT	psi-mi:“MI:0915”(physical association)	0.370
Mis12	CTNNB1	psi-mi:“MI:0914”(association)	0.350
CAT	JUP	psi-mi:“MI:0914”(association)	0.350
NFKB1	NFKB1	psi-mi:“MI:0914”(association)	0.350
METTL14	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
DAG1	AGRN	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
USP53	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
SH2D3C	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
ITSN1	AP2A2	psi-mi:“MI:0914”(association)	0.350
GSK3B	PRSS37	psi-mi:“MI:0914”(association)	0.350
PHF21B	KDM1A	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (223): CAT (Affinity Capture-RNA), CAT (Affinity Capture-RNA), CAT (Affinity Capture-MS), CAT (Affinity Capture-MS), CAT (Co-fractionation), CAT (Co-fractionation), CAT (Co-fractionation), CAT (Co-fractionation), CAT (Co-fractionation), CAT (Co-fractionation), CAT (Co-fractionation), CAT (Co-fractionation), CAT (Co-fractionation), CAT (Co-fractionation), CAT (Co-fractionation)

ESM2 similar proteins: C5FTM9, D4AK44, O13289, O52762, O61235, O62839, O68146, O77229, O97492, P00432, P04040, P04762, P07820, P0A326, P0A327, P15202, P17336, P24168, P24270, P26901, P29422, P30263, P30265, P42321, P44390, P45737, P55304, P55306, P77872, P90682, P95631, Q27487, Q27710, Q2I6W4, Q43206, Q49XC1, Q59602, Q5RF10, Q64405, Q66V81

Diamond homologs: A0A0A2JW88, A6ZV70, A8C7R6, B8AME2, C5FTM9, D4AK44, D4D445, M1WA44, O13289, O24339, O48560, O52762, O61235, O62839, O68146, O77229, O93662, O97492, P00432, P04040, P04762, P06115, P07820, P0A323, P0A324, P0A325, P0A326, P0A327, P0C549, P12365, P15202, P17336, P18123, P24168, P24270, P26901, P29422, P29756, P30263, P30265

SIGNOR signaling

16 interactions.

A	Effect	B	Mechanism
ABL1	“up-regulates activity”	CAT	phosphorylation
ABL2	“up-regulates activity”	CAT	phosphorylation
BTG2	“up-regulates quantity by expression”	CAT	“transcriptional regulation”
NFE2L2	“up-regulates quantity by expression”	CAT	“transcriptional regulation”
PPARD	“up-regulates quantity by expression”	CAT	“transcriptional regulation”
ABL1	up-regulates	CAT	phosphorylation
ABL2	up-regulates	CAT	phosphorylation
PRKCD	“up-regulates activity”	CAT	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of STAT3 by cadherin engagement	5	17.7×	1e-03
SARS-CoV Infections	6	7.2×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
canonical Wnt signaling pathway	5	12.6×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

84 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	29
Likely benign	16
Benign	11

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
17599	NM_001752.4(CAT):c.480+5G>A	Pathogenic
29621	NM_001752.4(CAT):c.358del (p.Ser120fs)	Pathogenic
29622	NM_001752.4(CAT):c.203_204dup (p.Ile69fs)	Pathogenic
1033865	NM_001752.4(CAT):c.1057-2A>G	Likely pathogenic
4845759	NM_001752.4(CAT):c.196C>T (p.Arg66Ter)	Likely pathogenic

SpliceAI

2178 predictions. Top by Δscore:

Variant	Effect	Δscore
11:34439058:G:GT	donor_gain	1.0000
11:34439077:CAG:C	donor_loss	1.0000
11:34439078:AG:A	donor_loss	1.0000
11:34448477:G:GT	donor_gain	1.0000
11:34448486:C:G	donor_gain	1.0000
11:34449179:T:A	acceptor_gain	1.0000
11:34449181:T:TA	acceptor_gain	1.0000
11:34449187:T:A	acceptor_gain	1.0000
11:34449187:TGTA:T	acceptor_loss	1.0000
11:34449188:GTA:G	acceptor_loss	1.0000
11:34449190:A:AG	acceptor_gain	1.0000
11:34449190:A:AT	acceptor_loss	1.0000
11:34449191:G:GT	acceptor_gain	1.0000
11:34449191:GA:G	acceptor_gain	1.0000
11:34449191:GAA:G	acceptor_gain	1.0000
11:34449191:GAAA:G	acceptor_gain	1.0000
11:34449359:AGCAG:A	donor_gain	1.0000
11:34449360:GCAG:G	donor_gain	1.0000
11:34449360:GCAGG:G	donor_gain	1.0000
11:34449361:CAG:C	donor_gain	1.0000
11:34449361:CAGG:C	donor_loss	1.0000
11:34449364:G:GG	donor_gain	1.0000
11:34449364:GTAA:G	donor_loss	1.0000
11:34449365:T:A	donor_loss	1.0000
11:34451095:GTTG:G	donor_gain	1.0000
11:34451097:TGG:T	donor_loss	1.0000
11:34451099:G:C	donor_loss	1.0000
11:34451099:G:GG	donor_gain	1.0000
11:34451100:T:TC	donor_loss	1.0000
11:34452071:TTGTA:T	acceptor_loss	1.0000

AlphaMissense

3522 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:34452171:T:A	N148K	0.999
11:34452171:T:G	N148K	0.999
11:34461287:C:A	R365S	0.999
11:34449341:A:C	R72S	0.998
11:34449341:A:T	R72S	0.998
11:34449348:C:G	H75D	0.998
11:34452154:T:A	W143R	0.998
11:34452154:T:C	W143R	0.998
11:34452184:T:C	F153L	0.998
11:34452186:C:A	F153L	0.998
11:34452186:C:G	F153L	0.998
11:34453108:A:C	S167R	0.998
11:34453110:C:A	S167R	0.998
11:34453110:C:G	S167R	0.998
11:34456797:A:C	S346R	0.998
11:34456799:T:A	S346R	0.998
11:34456799:T:G	S346R	0.998
11:34461322:C:A	N376K	0.998
11:34461322:C:G	N376K	0.998
11:34449322:G:C	R66P	0.997
11:34452118:G:A	G131R	0.997
11:34452118:G:C	G131R	0.997
11:34452118:G:T	G131W	0.997
11:34452119:G:A	G131E	0.997
11:34452167:G:A	G147E	0.997
11:34452174:C:A	N149K	0.997
11:34452174:C:G	N149K	0.997
11:34453090:T:C	F161L	0.997
11:34453091:T:G	F161C	0.997
11:34453092:T:A	F161L	0.997

dbSNP variants (sampled 300 via entrez): RS1000102164 (11:34471758 A>G,T), RS1000148062 (11:34444358 G>T), RS1000162829 (11:34457096 A>G), RS1000189640 (11:34454111 C>T), RS1000307684 (11:34463809 A>G), RS1000343 (11:34452510 C>T), RS1000548419 (11:34462674 C>T), RS1000556400 (11:34439208 A>C,G,T), RS1000626183 (11:34440572 T>C,G), RS1000640473 (11:34448620 C>A), RS1000645155 (11:34462451 A>C,T), RS1000713286 (11:34445668 A>G), RS1000806868 (11:34445840 T>C), RS1000889933 (11:34457437 C>T), RS1000934954 (11:34455254 T>C)

Disease associations

OMIM: gene MIM:115500 | disease phenotypes: MIM:614097

GenCC curated gene-disease

Disease	Classification	Inheritance
acatalasia	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
acatalasia	Moderate	AR

Mondo (2): acatalasia (MONDO:0013571), intellectual disability (MONDO:0001071)

Orphanet (2): Acatalasemia (Orphanet:926), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

18 total (18 of 18 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000155	Oral ulcer
HP:0000166	Severe periodontitis
HP:0000225	Gingival bleeding
HP:0000230	Gingivitis
HP:0001045	Vitiligo
HP:0001300	Parkinsonism
HP:0001935	Microcytic anemia
HP:0002634	Arteriosclerosis
HP:0005978	Type II diabetes mellitus
HP:0006357	Premature loss of permanent teeth
HP:0012517	Reduced circulating catalase activity
HP:0012531	Pain
HP:0040113	Old-aged sensorineural hearing impairment
HP:0100605	Neoplasm of the larynx
HP:0100651	Type I diabetes mellitus
HP:0100753	Schizophrenia
HP:0100758	Gangrene

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_743	Blood protein levels	1.000000e-20

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D020642	Acatalasia	C16.320.565.663.050; C18.452.648.663.050
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3627594 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,589 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538
CHEMBL4633785	XERUBORBACTAM	1	51

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

2 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1001179	Other	3	ethanol	Alcohol abuse
rs10836235	Toxicity	3	anthracyclines and related substances	Acute lymphoblastic leukemia

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1001179	CAT	3	2.75	1	ethanol
rs10836235	CAT	3	1.75	1	anthracyclines and related substances
rs7943316	CAT		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — 1.-.-.- Oxidoreductases

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.24	Kd	57.05	nM	CHEMBL5653589
7.24	ED50	57.05	nM	CHEMBL5653589
5.96	IC50	1100	nM	XERUBORBACTAM
5.00	IC50	1e+04	nM	MOLIBRESIB

PubChem BioAssay actives

3 with measured affinity, of 15 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148001: Binding affinity to human CAT incubated for 45 mins by Kinobead based pull down assay	kd	0.0570	uM
(1aR,7bS)-5-fluoro-2-hydroxy-1a,7b-dihydro-1H-cyclopropa[c][1,2]benzoxaborinine-4-carboxylic acid	1657188: Inhibition of mammalian cathepsin A (unknown origin) using MCA-RPPGFSAFK-Dnp as substrate preincubated for 10 mins followed by substrate addition measured after 30 mins	ic50	1.1000	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179029: Inhibition of CAT (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	10.0000	uM

CTD chemical–gene interactions

584 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Hydrogen Peroxide	increases chemical synthesis, affects localization, increases transport, increases activity, increases phosphorylation (+18 more)	62
Acetylcysteine	decreases reaction, decreases expression, affects activity, increases activity, increases abundance (+3 more)	20
sodium arsenite	increases response to substance, increases expression, increases reaction, increases abundance, increases activity (+7 more)	19
Paraquat	decreases response to substance, increases reaction, decreases activity, affects cotreatment, decreases reaction (+7 more)	19
Ascorbic Acid	increases expression, increases degradation, decreases activity, decreases expression, decreases response to substance (+7 more)	15
Reactive Oxygen Species	affects expression, decreases abundance, decreases reaction, increases activity, increases abundance (+5 more)	15
Arsenic Trioxide	decreases reaction, increases reaction, increases abundance, increases expression, decreases response to substance (+4 more)	14
Quercetin	increases expression, decreases activity, decreases reaction, increases activity, decreases expression (+2 more)	14
Particulate Matter	increases secretion, increases expression, decreases expression, increases cleavage, decreases activity (+7 more)	14
Resveratrol	decreases activity, increases reaction, increases activity, affects cotreatment, increases expression (+1 more)	13
bisphenol A	affects expression, decreases activity, decreases expression, affects response to substance, decreases reaction (+2 more)	12
chromium hexavalent ion	decreases activity, decreases expression, increases activity, increases chemical synthesis, decreases response to substance (+3 more)	11
Cisplatin	increases acetylation, increases reaction, increases activity, decreases activity, decreases reaction (+4 more)	11
Cadmium Chloride	affects activity, decreases activity, decreases expression, affects cotreatment, increases abundance (+2 more)	11
Benzo(a)pyrene	decreases methylation, increases reaction, decreases activity, decreases reaction, increases activity (+3 more)	10
Plant Extracts	increases reaction, increases activity, increases expression, affects activity, affects reaction (+5 more)	10
Ethanol	increases expression, increases reaction, decreases activity, increases activity, decreases reaction (+3 more)	9
Amitrole	decreases activity, decreases reaction, increases response to substance, affects binding, increases activity (+2 more)	9
Tobacco Smoke Pollution	decreases expression, decreases reaction, increases expression, increases reaction, affects expression	9
tert-Butylhydroperoxide	decreases response to substance, affects cotreatment, decreases reaction, decreases activity, affects response to substance (+3 more)	9
Cadmium	increases activity, increases reaction, decreases reaction, increases phosphorylation, affects cotreatment (+5 more)	8
Glucose	increases chemical synthesis, decreases reaction, increases reaction, affects cotreatment, decreases activity (+7 more)	8
Vitamin E	decreases activity, increases abundance, affects cotreatment, affects expression, decreases reaction (+2 more)	8
Arsenic	increases response to substance, decreases reaction, increases activity, affects cotreatment, increases expression (+6 more)	7
Curcumin	decreases reaction, decreases expression, increases activity, increases reaction, affects cotreatment (+2 more)	7
Cyclosporine	decreases reaction, affects cotreatment, affects expression, decreases expression, decreases activity	7
Vitamin K 3	affects expression, affects cotreatment, decreases response to substance, decreases reaction, increases expression (+2 more)	7
Acetaminophen	affects cotreatment, decreases expression, decreases activity, increases expression, decreases reaction (+2 more)	6
Air Pollutants	decreases expression, increases abundance, affects methylation, increases response to substance, affects response to substance (+3 more)	6
Vehicle Emissions	decreases reaction, increases expression, affects localization, decreases activity, decreases expression (+3 more)	6

ChEMBL screening assays

12 unique, capped per target: 11 binding, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3631099	Binding	Inhibition of catalase (unknown origin)	Identification of Substituted Naphthotriazolediones as Novel Tryptophan 2,3-Dioxygenase (TDO) Inhibitors through Structure-Based Virtual Screening. — J Med Chem
CHEMBL4617714	ADMET	Inhibition of mammalian cathepsin A (unknown origin) using MCA-RPPGFSAFK-Dnp as substrate preincubated for 10 mins followed by substrate addition measured after 30 mins	Discovery of Cyclic Boronic Acid QPX7728, an Ultrabroad-Spectrum Inhibitor of Serine and Metallo-β-lactamases. — J Med Chem

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1M7	Abcam HeLa CAT KO 1	Cancer cell line	Female
CVCL_B1M8	Abcam HeLa CAT KO 2	Cancer cell line	Female
CVCL_SH03	HAP1 CAT (-) 1	Cancer cell line	Male
CVCL_SH04	HAP1 CAT (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

197 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders