DUOXA1

Summary

DUOXA1 (dual oxidase maturation factor 1, HGNC:26507) is a protein-coding gene on chromosome 15q21.1, encoding Dual oxidase maturation factor 1 (Q1HG43). Required for the maturation and transport of functional DUOX1 from the endoplasmic reticulum to the plasma membrane.

Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 90527 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital hypothyroidism (Moderate, GenCC)
• Clinical variants (ClinVar): 79 total — 1 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_001276266

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26507
Approved symbol	DUOXA1
Name	dual oxidase maturation factor 1
Location	15q21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32334, NUMBIP, NIP, mol
Ensembl gene	ENSG00000140254
Ensembl biotype	protein_coding
OMIM	612771
Entrez	90527

Gene structure

Transcript identifiers

Ensembl transcripts: 116 — 113 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000267803, ENST00000430224, ENST00000558326, ENST00000558377, ENST00000558422, ENST00000558851, ENST00000558976, ENST00000558996, ENST00000559013, ENST00000559014, ENST00000559226, ENST00000559407, ENST00000559644, ENST00000559988, ENST00000560572, ENST00000613425, ENST00000885541, ENST00000885542, ENST00000885543, ENST00000885544, ENST00000885545, ENST00000885546, ENST00000885547, ENST00000885548, ENST00000885549, ENST00000885550, ENST00000885551, ENST00000885552, ENST00000885553, ENST00000885554, ENST00000885555, ENST00000885556, ENST00000885557, ENST00000885558, ENST00000885559, ENST00000885560, ENST00000885561, ENST00000885562, ENST00000885563, ENST00000885564, ENST00000885565, ENST00000885566, ENST00000885567, ENST00000885568, ENST00000885569, ENST00000885570, ENST00000885571, ENST00000885572, ENST00000885573, ENST00000885574, ENST00000885575, ENST00000885576, ENST00000926543, ENST00000957938, ENST00000957939, ENST00000957940, ENST00000957941, ENST00000957942, ENST00000957943, ENST00000957944, ENST00000957945, ENST00000957946, ENST00000957947, ENST00000957948, ENST00000957949, ENST00000957950, ENST00000957951, ENST00000957952, ENST00000957953, ENST00000957954, ENST00000957955, ENST00000957956, ENST00000957957, ENST00000957958, ENST00000957959, ENST00000957960, ENST00000957961, ENST00000957962, ENST00000957963, ENST00000957964, ENST00000957965, ENST00000957966, ENST00000957967, ENST00000957968, ENST00000957969, ENST00000957970, ENST00000957971, ENST00000957972, ENST00000957973, ENST00000957974, ENST00000957975, ENST00000957976, ENST00000957977, ENST00000957978, ENST00000957979, ENST00000957980, ENST00000957981, ENST00000957982, ENST00000957983, ENST00000957984, ENST00000957985, ENST00000957986, ENST00000957987, ENST00000957988, ENST00000957989, ENST00000957990, ENST00000957991, ENST00000957992, ENST00000957993, ENST00000957994, ENST00000957995, ENST00000957996, ENST00000957997, ENST00000957998, ENST00000957999, ENST00000958000

RefSeq mRNA: 7 — MANE Select: NM_001276266 NM_001276264, NM_001276265, NM_001276266, NM_001276267, NM_001276268, NM_001384349, NM_144565

CCDS: CCDS10119, CCDS61619, CCDS61620, CCDS61621

Canonical transcript exons

ENST00000560572 — 9 exons

Exon	Start	End
ENSE00001121213	45120103	45120320
ENSE00001121233	45122185	45122242
ENSE00001283651	45121087	45121221
ENSE00001337034	45122868	45123043
ENSE00001433394	45129018	45129134
ENSE00001433993	45129460	45129615
ENSE00001624190	45120592	45120805
ENSE00002539526	45117366	45119365
ENSE00002565574	45129852	45129879

Expression profiles

Bgee: expression breadth ubiquitous, 181 present calls, max score 98.81.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6715 / max 101.0976, expressed in 123 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149684	0.6008	122
149683	0.0707	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.81	gold quality
right lobe of thyroid gland	UBERON:0001119	98.26	gold quality
left lobe of thyroid gland	UBERON:0001120	97.86	gold quality
esophagus mucosa	UBERON:0002469	97.30	gold quality
thyroid gland	UBERON:0002046	97.17	gold quality
skin of abdomen	UBERON:0001416	94.91	gold quality
skin of leg	UBERON:0001511	94.78	gold quality
right lung	UBERON:0002167	93.60	gold quality
zone of skin	UBERON:0000014	92.90	gold quality
lower lobe of lung	UBERON:0008949	92.73	gold quality
upper lobe of left lung	UBERON:0008952	92.68	gold quality
upper lobe of lung	UBERON:0008948	92.63	gold quality
pharyngeal mucosa	UBERON:0000355	91.59	gold quality
buccal mucosa cell	CL:0002336	90.99	gold quality
nasal cavity epithelium	UBERON:0005384	90.84	gold quality
oral cavity	UBERON:0000167	90.36	gold quality
vagina	UBERON:0000996	88.80	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.59	gold quality
esophagus squamous epithelium	UBERON:0006920	87.87	gold quality
gingiva	UBERON:0001828	86.68	gold quality
body of stomach	UBERON:0001161	85.96	gold quality
lung	UBERON:0002048	85.47	gold quality
gingival epithelium	UBERON:0001949	85.45	gold quality
corpus epididymis	UBERON:0004359	84.73	gold quality
cauda epididymis	UBERON:0004360	83.38	gold quality
upper leg skin	UBERON:0004262	83.27	gold quality
mammalian vulva	UBERON:0000997	83.25	gold quality
bronchial epithelial cell	CL:0002328	82.50	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.59	gold quality
bronchus	UBERON:0002185	81.40	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	24.56

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1, TP53

miRNA regulators (miRDB)

12 targeting DUOXA1, 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-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-6885-5P	98.71	64.33	902
HSA-MIR-1245B-3P	98.01	68.91	1387
HSA-MIR-4749-3P	96.40	66.24	798
HSA-MIR-431-5P	96.16	66.50	652

Literature-anchored findings (GeneRIF, showing 5)

• DUOXA1 transient overexpression affected the cell-cell adhesion by modulating the actin cytoskeleton (PMID:19322654)
• Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells. (PMID:19339556)
• We analyzed the expression of NADPH oxidase isoforms and found both A431 and HaCaT cells to express the calcium-sensitive NADPH oxidase, Dual oxidase 1 (Duox1) and its protein partner Duox activator 1 (DuoxA1).Our observations provide evidence for a new signaling paradigm in which changes of intracellular calcium concentration are transformed into redox signals through the calcium-dependent activation of Duox1. (PMID:27262981)
• Study shows that DUOXA1 is overexpressed in platinum-resistant ovarian cancer (OC) cells, resulting in over production of reactive oxygen species (ROS). Elevated ROS level sustains the activation of ATR-Chk1 pathway, leading to resistance to cisplatin in OC cells. Clinical studies also confirm the activation of ATR and DOUXA1 in OC patients, and elevated DOUXA1 or ATR-Chk1 pathway correlates with poor prognosis. (PMID:29704517)
• Structures of human dual oxidase 1 complex in low-calcium and high-calcium states. (PMID:33420071)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	duox2	ENSDARG00000078962
mus_musculus	Duoxa1	ENSMUSG00000027224
rattus_norvegicus	Duoxa1	ENSRNOG00000018005
drosophila_melanogaster	mol	FBGN0086711
caenorhabditis_elegans		WBGENE00015519

Paralogs (1): DUOXA2 (ENSG00000140274)

Protein

Protein identifiers

Dual oxidase maturation factor 1 — Q1HG43 (reviewed: Q1HG43)

Alternative names: Dual oxidase activator 1, Numb-interacting protein

All UniProt accessions (12): Q1HG43, A8K9Q6, B5M0B7, B5M0B8, B5M0C0, H0YKF3, H0YKG3, H0YLI1, H0YLQ4, H0YMH9, H0YMZ8, H0YNR1

UniProt curated annotations — full annotation on UniProt →

Function. Required for the maturation and transport of functional DUOX1 from the endoplasmic reticulum to the plasma membrane. Recruits DUOX1 to the apical cell membrane.

Subunit / interactions. Heterotetramer with DUOX1 consisting of 2 DUOX1-DUOXA1 heterodimers. This may represent the inactive state. Has also been detected as a heterodimer with DUOX1 which has been proposed to be the active state. May interact with NUMB.

Subcellular location. Apical cell membrane.

Tissue specificity. Specifically expressed in thyroid gland. Also detected in esophagus.

Post-translational modifications. N-glycosylation of DUOXA1 is required for sorting of DUOX1 to the apical cell membrane.

Similarity. Belongs to the DUOXA family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q1HG43-1	1	yes
Q1HG43-2	2
Q1HG43-3	3

RefSeq proteins (7): NP_001263193, NP_001263194, NP_001263195, NP_001263196, NP_001263197, NP_001371278, NP_653166 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018469	Dual_oxidase_maturation_fac	Family

Pfam: PF10204

UniProt features (41 total): strand 8, helix 8, topological domain 6, transmembrane region 5, glycosylation site 3, mutagenesis site 3, splice variant 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, disulfide bond 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7D3F	ELECTRON MICROSCOPY	2.6
7D3E	ELECTRON MICROSCOPY	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q1HG43-F1	82.56	0.66

Functional residue map

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

Disulfide bonds (1): 167–234

Glycosylation sites (3): 84, 109, 121

Mutagenesis-validated functional residues (3):

Position	Phenotype
84	abolishes targeting of duox1 to the apical cell membrane; when associated with q-109 and q-121.
109	abolishes targeting of duox1 to the apical cell membrane; when associated with q-84 and q-121.
121	abolishes targeting of duox1 to the apical cell membrane; when associated with q-84 and q-109.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-209968	Thyroxine biosynthesis

MSigDB gene sets: 93 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, BENPORATH_ES_WITH_H3K27ME3, GOBP_INFLAMMATORY_RESPONSE, GOBP_POSITIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_BIOSYNTHETIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_THYROID_HORMONE_METABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_REACTIVE_OXYGEN_SPECIES_BIOSYNTHETIC_PROCESS, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS

GO Biological Process (8): intracellular protein localization (GO:0008104), positive regulation of hydrogen peroxide biosynthetic process (GO:0010729), protein transport (GO:0015031), hydrogen peroxide metabolic process (GO:0042743), positive regulation of neuron differentiation (GO:0045666), regulation of inflammatory response (GO:0050727), regulation of thyroid hormone generation (GO:2000609), positive regulation of reactive oxygen species metabolic process (GO:2000379)

GO Molecular Function (2): enzyme binding (GO:0019899), protein binding (GO:0005515)

GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), cell leading edge (GO:0031252)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of amine-derived hormones	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
reactive oxygen species metabolic process	2
cellular anatomical structure	2
macromolecule localization	1
regulation of hydrogen peroxide biosynthetic process	1
hydrogen peroxide biosynthetic process	1
positive regulation of reactive oxygen species biosynthetic process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
neuron differentiation	1
positive regulation of cell differentiation	1
regulation of neuron differentiation	1
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
thyroid hormone generation	1
regulation of hormone metabolic process	1
positive regulation of metabolic process	1
regulation of reactive oxygen species metabolic process	1
protein binding	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

508 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DUOXA1	DUOX1	Q9NRD9	990
DUOXA1	DUOX2	Q9NRD8	972
DUOXA1	NOXA1	Q86UR1	775
DUOXA1	CYBB	P04839	658
DUOXA1	NOXO1	Q8NFA2	650
DUOXA1	NOX5	Q96PH1	642
DUOXA1	IYD	Q6PHW0	618
DUOXA1	NOX3	Q9HBY0	614
DUOXA1	DUOXA2	Q1HG44	606
DUOXA1	NUMB	P49757	599
DUOXA1	NUMBL	Q9Y6R0	598
DUOXA1	NOX1	Q9Y5S8	584
DUOXA1	SLC5A5	Q92911	576
DUOXA1	CYBA	P13498	575
DUOXA1	SLC26A4	O43511	543

IntAct

5 interactions, top by confidence:

A	B	Type	Score
DUOX1	DUOXA1	psi-mi:“MI:0407”(direct interaction)	0.600

BioGRID (2): DUOXA1 (Affinity Capture-MS), DUOXA1 (Affinity Capture-Luminescence)

ESM2 similar proteins: A1L504, A2A6C4, A5D7M7, A6NH21, A8WCG0, B0BNG2, D3ZI76, E9PY61, J3QMI4, O15554, O75908, O77759, O89109, P0C8N6, P51811, Q14DK4, Q1HG43, Q3TD49, Q496Z4, Q49LS0, Q49LS1, Q49LS5, Q49LS8, Q5GH56, Q5GH64, Q5GH72, Q5PQL3, Q5T1A1, Q5XK03, Q60850, Q6PRD1, Q7RTS5, Q7RTS6, Q7TN58, Q7TN60, Q7TQ65, Q7Z403, Q7Z404, Q80SX5, Q80UF9

Diamond homologs: P34298, Q1HG43, Q8VE49, Q0P4G7, Q1HG44, Q6DDK3, Q9D311

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	54
Likely benign	12
Benign	2

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
3366765	NC_000015.9:g.(?45406523)(45410620_?)del	Pathogenic
3577220	NM_207581.4(DUOXA2):c.770-19_780del	Likely pathogenic
3577221	NM_207581.4(DUOXA2):c.860del (p.Lys287fs)	Likely pathogenic

SpliceAI

1115 predictions. Top by Δscore:

Variant	Effect	Δscore
15:45117698:C:CA	acceptor_gain	1.0000
15:45117715:GGC:G	acceptor_gain	1.0000
15:45120806:C:CC	acceptor_gain	1.0000
15:45122867:CCGT:C	donor_gain	1.0000
15:45117706:A:AG	acceptor_gain	0.9900
15:45117706:ACC:A	acceptor_gain	0.9900
15:45117707:C:G	acceptor_gain	0.9900
15:45117708:C:CA	acceptor_gain	0.9900
15:45117713:CAGG:C	acceptor_loss	0.9900
15:45117714:A:AG	acceptor_gain	0.9900
15:45117714:AGGC:A	acceptor_gain	0.9900
15:45117715:G:GT	acceptor_gain	0.9900
15:45117715:GGCG:G	acceptor_gain	0.9900
15:45117715:GGCGT:G	acceptor_gain	0.9900
15:45119363:GTC:G	acceptor_gain	0.9900
15:45119366:C:CC	acceptor_gain	0.9900
15:45119366:C:CG	acceptor_loss	0.9900
15:45119367:T:C	acceptor_loss	0.9900
15:45119372:A:AC	acceptor_gain	0.9900
15:45119372:A:C	acceptor_gain	0.9900
15:45120259:C:CT	acceptor_gain	0.9900
15:45120266:C:CT	acceptor_gain	0.9900
15:45120267:A:T	acceptor_gain	0.9900
15:45120586:CCTCA:C	donor_loss	0.9900
15:45120587:CTCA:C	donor_loss	0.9900
15:45120588:TCAC:T	donor_loss	0.9900
15:45120589:CACCA:C	donor_loss	0.9900
15:45120590:A:T	donor_loss	0.9900
15:45120591:C:CA	donor_loss	0.9900
15:45120801:GGTCC:G	acceptor_gain	0.9900

AlphaMissense

2210 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:45122210:G:C	S60R	0.972
15:45122210:G:T	S60R	0.972
15:45122212:T:G	S60R	0.972
15:45121201:A:G	W76R	0.971
15:45121201:A:T	W76R	0.971
15:45120304:A:G	W191R	0.957
15:45120304:A:T	W191R	0.957
15:45121199:C:A	W76C	0.945
15:45121199:C:G	W76C	0.945
15:45121092:A:G	L112P	0.923
15:45120752:A:G	W132R	0.919
15:45120752:A:T	W132R	0.919
15:45121157:G:C	F90L	0.918
15:45121157:G:T	F90L	0.918
15:45121159:A:G	F90L	0.918
15:45121163:C:A	K88N	0.913
15:45121163:C:G	K88N	0.913
15:45120756:G:C	F130L	0.910
15:45120756:G:T	F130L	0.910
15:45120758:A:G	F130L	0.910
15:45120235:C:G	G214R	0.906
15:45120757:A:G	F130S	0.905
15:45119345:C:G	G265R	0.904
15:45119357:A:G	C261R	0.901
15:45120103:C:G	G258R	0.901
15:45120103:C:T	G258R	0.901
15:45120122:G:C	F251L	0.899
15:45120122:G:T	F251L	0.899
15:45120124:A:G	F251L	0.899
15:45120234:C:T	G214D	0.895

dbSNP variants (sampled 300 via entrez): RS1000210494 (15:45128723 T>C), RS1000366818 (15:45125620 G>A), RS1000483424 (15:45131866 C>A,G,T), RS1000747176 (15:45120505 C>A,G,T), RS1000865006 (15:45130248 G>A), RS1001944739 (15:45120515 G>A), RS1002040904 (15:45127167 C>T), RS1002239166 (15:45125493 G>A,T), RS1002292768 (15:45120767 T>C), RS1002576079 (15:45124055 A>G), RS1002648118 (15:45130187 C>T), RS1002700491 (15:45129966 C>G), RS1002754201 (15:45129677 G>A), RS1003208915 (15:45117461 G>A), RS1003552472 (15:45122277 G>A,C)

Disease associations

OMIM: gene MIM:612771 | disease phenotypes: MIM:274900

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital hypothyroidism	Moderate	Semidominant

Mondo (2): thyroid dyshormonogenesis 5 (MONDO:0010137), congenital hypothyroidism (MONDO:0018612)

Orphanet (1): Familial thyroid dyshormonogenesis (Orphanet:95716)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D003409	Congenital Hypothyroidism	C05.116.099.343.347; C05.116.132.256; C16.320.240.625; C19.297.155; C19.874.482.281
C562771	Thyroid Dyshormonogenesis 5 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
Aflatoxin B1	increases expression, decreases methylation	2
sotorasib	affects cotreatment, decreases expression	1
sodium arsenite	decreases expression	1
CGP 52608	affects binding, increases reaction	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Antimony Potassium Tartrate	decreases expression	1
Copper	affects cotreatment, decreases expression	1
Diazinon	decreases methylation	1
Nickel	increases expression	1
Paraquat	increases expression	1
Phenobarbital	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases methylation	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05228184	PHASE4	TERMINATED	Use of Tirosint®-SOL or Tablet Formulations of Levothyroxine in Pediatric Patients With Congenital Hypothyroidism (CH)
NCT05371262	PHASE4	COMPLETED	Influence of Initial Levothyroxine Dose on Neurodevelopmental and Growth Outcomes in Congenital Hypothyroidism
NCT00403390	Not specified	COMPLETED	Generic vs. Name-Brand Levothyroxine
NCT00493103	Not specified	COMPLETED	TG Gene Mutations and Congenital Hypothyroidism
NCT00497575	Not specified	COMPLETED	Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism
NCT00505479	Not specified	UNKNOWN	Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy?
NCT01223638	Not specified	WITHDRAWN	The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism
NCT01349634	Not specified	COMPLETED	The Effects of Iodized Salt on Cognitive Development in Ethiopia
NCT01488721	Not specified	COMPLETED	Clinical Evaluation of NeoPlex4 Assay and NeoPlex System
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NCT02307175	Not specified	COMPLETED	A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication
NCT02374593	Not specified	COMPLETED	Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04712760	Not specified	UNKNOWN	Congenital Hypothyroidism in Children With Eutopic Gland or Thyroid Hemiagenesis: Predictive Factors for Transient vs Permanent Hypothyroidism.
NCT04734457	Not specified	UNKNOWN	Final Height in Patients With CH Diagnosed by the Screening
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06724224	Not specified	RECRUITING	Comparison of Levothyroxine Formulations in the Treatment of Congenital Hypothyroidism
NCT06728735	Not specified	RECRUITING	Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
NCT06864039	Not specified	ENROLLING_BY_INVITATION	Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism
NCT06864351	Not specified	RECRUITING	Prospective Evaluation of OptiThyDose
NCT07126353	Not specified	NOT_YET_RECRUITING	Metabolic Risk Assessment in Prepubertal Children With Congenital Hypothyroidism
NCT07280104	Not specified	RECRUITING	Infants With Primary Congenital Hypothyroidism and Development
NCT07425028	Not specified	NOT_YET_RECRUITING	Evaluation of an Intensified Systematic Screening for Congenital Hypothyroidism in Premature Newborns
NCT07579988	Not specified	NOT_YET_RECRUITING	Ultrasound Measurement of Thyroid Volume in Term Newborns