MBLAC1
gene geneOn this page
Also known as MGC49416
Summary
MBLAC1 (metallo-beta-lactamase domain containing 1, HGNC:22180) is a protein-coding gene on chromosome 7q22.1, encoding Metallo-beta-lactamase domain-containing protein 1 (A4D2B0). Endoribonuclease that catalyzes the hydrolysis of histone-coding pre-mRNA 3’-end.
Enables RNA endonuclease activity and metal ion binding activity. Involved in histone mRNA metabolic process; mRNA 3’-end processing; and positive regulation of G1/S transition of mitotic cell cycle. Located in cytoplasm and nucleus.
Source: NCBI Gene 255374 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 13 total — 1 likely-pathogenic
- MANE Select transcript:
NM_203397
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22180 |
| Approved symbol | MBLAC1 |
| Name | metallo-beta-lactamase domain containing 1 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC49416 |
| Ensembl gene | ENSG00000214309 |
| Ensembl biotype | protein_coding |
| OMIM | 620906 |
| Entrez | 255374 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000398075, ENST00000421390, ENST00000905248
RefSeq mRNA: 1 — MANE Select: NM_203397
NM_203397
CCDS: CCDS43620
Canonical transcript exons
ENST00000398075 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001531468 | 100127368 | 100128495 |
| ENSE00001531469 | 100126967 | 100127064 |
Expression profiles
Bgee: expression breadth ubiquitous, 173 present calls, max score 86.80.
FANTOM5 (CAGE): breadth broad, TPM avg 0.7196 / max 27.0525, expressed in 435 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79930 | 0.7196 | 435 |
Top tissues by expression
226 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.80 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.41 | silver quality |
| prefrontal cortex | UBERON:0000451 | 76.96 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 76.65 | silver quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 75.98 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 75.93 | gold quality |
| right frontal lobe | UBERON:0002810 | 75.63 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 75.28 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 75.21 | gold quality |
| cerebellar cortex | UBERON:0002129 | 75.16 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 74.88 | gold quality |
| cerebellum | UBERON:0002037 | 74.61 | gold quality |
| frontal cortex | UBERON:0001870 | 74.32 | gold quality |
| endothelial cell | CL:0000115 | 74.26 | silver quality |
| neocortex | UBERON:0001950 | 74.10 | gold quality |
| apex of heart | UBERON:0002098 | 73.85 | gold quality |
| cerebral cortex | UBERON:0000956 | 72.73 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 72.26 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 71.85 | gold quality |
| lower esophagus | UBERON:0013473 | 71.80 | gold quality |
| nucleus accumbens | UBERON:0001882 | 71.42 | gold quality |
| cortical plate | UBERON:0005343 | 71.41 | gold quality |
| brain | UBERON:0000955 | 71.27 | gold quality |
| forebrain | UBERON:0001890 | 71.26 | gold quality |
| right ovary | UBERON:0002118 | 71.08 | gold quality |
| right atrium auricular region | UBERON:0006631 | 71.08 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 71.05 | gold quality |
| amygdala | UBERON:0001876 | 71.01 | gold quality |
| cardiac atrium | UBERON:0002081 | 70.96 | gold quality |
| putamen | UBERON:0001874 | 70.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.88 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting MBLAC1, 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-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-4732-3P | 97.15 | 65.45 | 881 |
| HSA-MIR-345-5P | 96.40 | 66.43 | 663 |
Literature-anchored findings (GeneRIF, showing 1)
- The cellular, genetic, biochemical, substrate selectivity, and crystallographic studies have been reported providing evidence that endoribonuclease, MBLAC1, is selective for 3’ processing of replication-dependent histone pre-mRNA during the S-phase of the cell cycle. (PMID:30507380)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mblac1 | ENSDARG00000077314 |
| mus_musculus | Mblac1 | ENSMUSG00000049285 |
| rattus_norvegicus | Mblac1 | ENSRNOG00000082402 |
| drosophila_melanogaster | CG9117 | FBGN0031766 |
| caenorhabditis_elegans | WBGENE00018738 |
Protein
Protein identifiers
Metallo-beta-lactamase domain-containing protein 1 — A4D2B0 (reviewed: A4D2B0)
Alternative names: Endoribonuclease MBLAC1
All UniProt accessions (2): A4D2B0, C9JAV3
UniProt curated annotations — full annotation on UniProt →
Function. Endoribonuclease that catalyzes the hydrolysis of histone-coding pre-mRNA 3’-end. Involved in histone pre-mRNA processing during the S-phase of the cell cycle, which is required for entering/progressing through S-phase. Cleaves histone pre-mRNA at a major and a minor cleavage site after the 5’-ACCCA-3’ and the 5’-ACCCACA-3’ sequence, respectively, and located downstream of the stem-loop. May require the presence of the HDE element located at the histone pre-RNA 3’-end to avoid non-specific cleavage.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm. Cytosol. Nucleus.
Cofactor. Binds 2 Zn(2+) ions per subunit.
Domain organisation. Contains four of the five characteristic MBL-fold metal-binding motifs, with two waters completing metal coordination.
Similarity. Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
RefSeq proteins (1): NP_981942* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001279 | Metallo-B-lactamas | Domain |
| IPR036866 | RibonucZ/Hydroxyglut_hydro | Homologous_superfamily |
| IPR039344 | MBLAC1 | Family |
Pfam: PF00753
Catalyzed reactions (Rhea), 1 shown:
- a ribonucleotidyl-ribonucleotide-RNA + H2O = a 3’-end ribonucleotide-RNA + a 5’-end 5’-phospho-ribonucleoside-RNA + H(+) (RHEA:68096)
UniProt features (44 total): strand 16, binding site 8, helix 7, mutagenesis site 3, turn 3, region of interest 2, sequence variant 2, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4V0H | X-RAY DIFFRACTION | 1.79 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A4D2B0-F1 | 89.22 | 0.80 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 231; 114; 116; 118; 119; 169; 192; 192
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 169 | loss of endoribonuclease activity; when associated with a-192 and a-231. |
| 192 | loss of endoribonuclease activity; when associated with a-169 and a-231. |
| 231 | loss of endoribonuclease activity; when associated with a-169 and a-192. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 62 (showing top):
GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_MRNA_3_END_PROCESSING, GOBP_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_MITOTIC_CELL_CYCLE, GOBP_HISTONE_MRNA_METABOLIC_PROCESS
GO Biological Process (3): histone mRNA metabolic process (GO:0008334), mRNA 3’-end processing (GO:0031124), positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)
GO Molecular Function (4): RNA endonuclease activity (GO:0004521), hydrolase activity (GO:0016787), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| mRNA metabolic process | 1 |
| mRNA processing | 1 |
| RNA 3’-end processing | 1 |
| G1/S transition of mitotic cell cycle | 1 |
| positive regulation of mitotic cell cycle phase transition | 1 |
| positive regulation of cell cycle G1/S phase transition | 1 |
| regulation of G1/S transition of mitotic cell cycle | 1 |
| endonuclease activity | 1 |
| RNA nuclease activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
240 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MBLAC1 | MBLAC2 | Q68D91 | 664 |
| MBLAC1 | LACTB2 | Q53H82 | 642 |
| MBLAC1 | ELAC1 | Q9H777 | 531 |
| MBLAC1 | HAGHL | Q6PII5 | 497 |
| MBLAC1 | DCLRE1A | Q6PJP8 | 493 |
| MBLAC1 | ATOSA | Q32MH5 | 489 |
| MBLAC1 | HAGH | Q16775 | 479 |
| MBLAC1 | ZC3H6 | P61129 | 479 |
| MBLAC1 | ELAC2 | Q9BQ52 | 478 |
| MBLAC1 | INTS9 | Q9NV88 | 465 |
| MBLAC1 | KBTBD4 | Q9NVX7 | 456 |
| MBLAC1 | WASHC4 | Q2M389 | 447 |
| MBLAC1 | ISG20L2 | Q9H9L3 | 425 |
| MBLAC1 | DCLRE1B | Q9H816 | 415 |
| MBLAC1 | PNKD | Q8N490 | 399 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MBLAC1 | H1-7 | psi-mi:“MI:0914”(association) | 0.560 |
| MBLAC1 | H1-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (16): H1FNT (Affinity Capture-MS), CLP1 (Affinity Capture-MS), MBLAC1 (Two-hybrid), MBLAC1 (Two-hybrid), MBLAC1 (Two-hybrid), MBLAC1 (Two-hybrid), MBLAC1 (Two-hybrid), MBLAC1 (Two-hybrid), MBLAC1 (Two-hybrid), MBLAC1 (Two-hybrid), MBLAC1 (Two-hybrid), MBLAC1 (Two-hybrid), C10orf55 (Two-hybrid), MBLAC1 (Affinity Capture-MS), MBLAC1 (Affinity Capture-RNA)
ESM2 similar proteins: A2XFU4, A2XFU5, A2XVN3, A2YQ58, A3AVP1, A4D2B0, A4IFA8, A7HDG9, A8ID74, A8IF44, A8J1V4, A8MPS7, B1WBV0, B4UH39, B8JE35, G8XHD8, O86507, P29784, P52824, Q08325, Q0D3F2, Q0D9V6, Q0DSH9, Q10MI9, Q1CW46, Q2HJB0, Q2IQ95, Q2RSY6, Q498J9, Q50863, Q50864, Q53JI9, Q53U11, Q566Q8, Q5GA22, Q5NAI7, Q6AYD1, Q72DW3, Q758T2, Q82JN8
Diamond homologs: A4D2B0, Q11123, Q2HJB0, Q498J9, Q6AYD1, Q8BWY4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
13 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 12 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3358894 | NM_203397.3(MBLAC1):c.-28-1G>A | Likely pathogenic |
SpliceAI
256 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:100127367:GCCC:G | acceptor_gain | 0.9900 |
| 7:100127130:GGAC:G | donor_gain | 0.9800 |
| 7:100127131:G:GT | donor_gain | 0.9800 |
| 7:100127366:A:AG | acceptor_gain | 0.9800 |
| 7:100127367:G:GG | acceptor_gain | 0.9800 |
| 7:100127037:G:GG | donor_gain | 0.9700 |
| 7:100127104:G:GT | donor_gain | 0.9700 |
| 7:100127367:GC:G | acceptor_gain | 0.9700 |
| 7:100127134:G:GG | donor_gain | 0.9600 |
| 7:100127367:GCC:G | acceptor_gain | 0.9600 |
| 7:100127366:AGCCC:A | acceptor_gain | 0.9500 |
| 7:100127367:GCCCG:G | acceptor_gain | 0.9500 |
| 7:100127105:A:T | donor_gain | 0.9400 |
| 7:100127202:G:GT | donor_gain | 0.9400 |
| 7:100127043:C:T | donor_gain | 0.9300 |
| 7:100127093:G:T | donor_gain | 0.9200 |
| 7:100126994:G:GT | donor_gain | 0.9100 |
| 7:100127364:CCA:C | acceptor_loss | 0.9100 |
| 7:100127131:GAC:G | donor_gain | 0.9000 |
| 7:100127178:G:GT | donor_gain | 0.9000 |
| 7:100127363:CCCAG:C | acceptor_gain | 0.8900 |
| 7:100127364:CCAGC:C | acceptor_gain | 0.8900 |
| 7:100127365:CAGCC:C | acceptor_gain | 0.8900 |
| 7:100127129:AGGAC:A | donor_gain | 0.8800 |
| 7:100127130:GGACG:G | donor_gain | 0.8800 |
| 7:100127046:G:GT | donor_gain | 0.8700 |
| 7:100127036:A:AG | donor_gain | 0.8600 |
| 7:100127179:G:T | donor_gain | 0.8600 |
| 7:100127366:AG:A | acceptor_gain | 0.8600 |
| 7:100127367:G:T | acceptor_gain | 0.8600 |
AlphaMissense
1657 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:100127921:A:C | S176R | 0.989 |
| 7:100127923:C:A | S176R | 0.989 |
| 7:100127923:C:G | S176R | 0.989 |
| 7:100127975:T:C | F194L | 0.983 |
| 7:100127977:T:A | F194L | 0.983 |
| 7:100127977:T:G | F194L | 0.983 |
| 7:100127749:T:A | D118E | 0.977 |
| 7:100127749:T:G | D118E | 0.977 |
| 7:100127748:A:T | D118V | 0.975 |
| 7:100127970:A:T | D192V | 0.975 |
| 7:100128045:G:C | R217P | 0.975 |
| 7:100127971:T:A | D192E | 0.974 |
| 7:100127971:T:G | D192E | 0.974 |
| 7:100128098:T:C | F235L | 0.972 |
| 7:100128100:T:A | F235L | 0.972 |
| 7:100128100:T:G | F235L | 0.972 |
| 7:100127976:T:C | F194S | 0.969 |
| 7:100128014:A:C | S207R | 0.969 |
| 7:100128016:T:A | S207R | 0.969 |
| 7:100128016:T:G | S207R | 0.969 |
| 7:100128075:T:A | V227D | 0.969 |
| 7:100128004:G:C | W203C | 0.967 |
| 7:100128004:G:T | W203C | 0.967 |
| 7:100127771:T:C | F126L | 0.963 |
| 7:100127772:T:C | F126S | 0.963 |
| 7:100127773:C:A | F126L | 0.963 |
| 7:100127773:C:G | F126L | 0.963 |
| 7:100127748:A:C | D118A | 0.960 |
| 7:100127761:C:A | N122K | 0.960 |
| 7:100127761:C:G | N122K | 0.960 |
dbSNP variants (sampled 300 via entrez): RS1000392813 (7:100128116 G>T), RS1000694652 (7:100126631 A>G), RS1001735567 (7:100125562 G>A), RS1002288845 (7:100125423 T>C), RS1002674646 (7:100126929 G>A), RS1003158022 (7:100126779 T>A,C), RS1004086645 (7:100127995 G>A,T), RS1004314645 (7:100125759 G>C), RS1004751809 (7:100126015 T>C), RS1005215226 (7:100125422 C>T), RS1006252036 (7:100126458 G>C), RS1006597026 (7:100127496 T>G), RS1007039184 (7:100127699 G>A,C,T), RS1007270102 (7:100127389 C>A,T), RS1008189590 (7:100128980 T>C)
Disease associations
OMIM: gene MIM:620906 | disease phenotypes: MIM:192500
GenCC curated gene-disease
Mondo (1): familial long QT syndrome (MONDO:0019171)
Orphanet (2): Romano-Ward syndrome (Orphanet:101016), Congenital long QT syndrome (Orphanet:768)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005196_147 | Coronary artery disease | 2.000000e-06 |
| GCST009281_6 | Microalbuminuria in type 1 diabetes | 1.000000e-08 |
| GCST010002_259 | Refractive error | 3.000000e-16 |
| GCST010083_207 | Hemoglobin levels | 6.000000e-26 |
| GCST010702_48 | Subcortical volume (MOSTest) | 6.000000e-10 |
| GCST010703_289 | Brain morphology (MOSTest) | 6.000000e-15 |
| GCST90002383_428 | Hematocrit | 2.000000e-27 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004509 | hemoglobin measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004348 | hematocrit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Glyphosate | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Sodium Dodecyl Sulfate | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 2,4-Dichlorophenoxyacetic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression | 1 |
Clinical trials (associated diseases)
66 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02513940 | PHASE4 | COMPLETED | Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes |
| NCT03834883 | PHASE4 | COMPLETED | Reducing the Risk of Drug-Induced QT Interval Lengthening in Women |
| NCT04169100 | PHASE4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
| NCT04675788 | PHASE4 | COMPLETED | Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening |
| NCT01648205 | PHASE2 | COMPLETED | Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients |
| NCT02412709 | PHASE2 | UNKNOWN | Long QT Syndrome Screening in Newborns |
| NCT04581408 | PHASE2 | COMPLETED | Mutation-specific Therapy for the Long QT Syndrome |
| NCT00316459 | PHASE1 | COMPLETED | Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects |
| NCT01849003 | PHASE1 | COMPLETED | Study of the Effect of GS-6615 in Subjects With LQT-3 |
| NCT02365532 | PHASE1 | COMPLETED | Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults |
| NCT02412098 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function |
| NCT02441829 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function |
| NCT05759962 | PHASE1 | COMPLETED | Phase 1 Study of LQT-1213 in Healthy Adults |
| NCT05906732 | PHASE1/PHASE2 | TERMINATED | Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2). |
| NCT00005176 | Not specified | COMPLETED | Long QT Syndrome-Population Genetics and Cardiac Studies |
| NCT00005250 | Not specified | COMPLETED | Linkage Study of Long QT Syndrome In An Amish Kindred |
| NCT00005367 | Not specified | COMPLETED | Epidemiology of Long QTand Asian Sudden Death in Sleep |
| NCT00221832 | Not specified | UNKNOWN | Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases |
| NCT00292032 | Not specified | COMPLETED | Registry of Unexplained Cardiac Arrest |
| NCT00335036 | Not specified | TERMINATED | Pediatric Lead Extractability and Survival Evaluation (PLEASE) |
| NCT00399412 | Not specified | COMPLETED | ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients |
| NCT00488254 | Not specified | COMPLETED | The Long QT Syndrome in Pregnancy |
| NCT00588965 | Not specified | COMPLETED | Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects |
| NCT01705925 | Not specified | COMPLETED | Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome |
| NCT01903564 | Not specified | COMPLETED | Fetal and Neonatal Magnetophysiology |
| NCT02082431 | Not specified | COMPLETED | Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss. |
| NCT02413450 | Not specified | ENROLLING_BY_INVITATION | Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias |
| NCT02425189 | Not specified | COMPLETED | The Canadian National Long QT Syndrome Registry |
| NCT02439645 | Not specified | TERMINATED | A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes |
| NCT02439658 | Not specified | UNKNOWN | Genetics of QT Prolongation With Antiarrhythmics |
| NCT02549664 | Not specified | COMPLETED | Exercise in Genetic Cardiovascular Conditions |
| NCT02581241 | Not specified | COMPLETED | Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome |
| NCT02680080 | Not specified | COMPLETED | Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome |
| NCT02775513 | Not specified | UNKNOWN | Metabolism of Patients With Genetically Caused Cardiac Arrhythmia |
| NCT02814981 | Not specified | UNKNOWN | Hydroxyzine and Risk of Prolongation of QT Interval |
| NCT02876380 | Not specified | COMPLETED | Prospective Identification of Long QT Syndrome in Fetal Life |
| NCT03182777 | Not specified | COMPLETED | Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies |
| NCT03544918 | Not specified | COMPLETED | Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort |
| NCT03642405 | Not specified | UNKNOWN | Drug-induced Repolarization ECG Changes |
| NCT03678311 | Not specified | COMPLETED | Long QT Syndrome and Sleep Apnea |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): familial long QT syndrome