GeneBe

LTA4H

leukotriene A4 hydrolase, the group of M1 metallopeptidases

Basic information

Region (hg38): 12:96000753-96043520

Links

ENSG00000111144 ∙ NCBI:4048 ∙ OMIM:151570 ∙ HGNC:6710 ∙ Uniprot:P09960 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the LTA4H gene.

  • not_specified (51 variants)
  • not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LTA4H gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000895.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
clinvar
 4
missense
49
clinvar
3
clinvar
1
clinvar
 53
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 49 5 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
LTA4Hprotein_codingprotein_codingENST00000228740 1942693
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.96e-80.9991256820661257480.000262
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.482423160.7660.00001513975
Missense in Polyphen85108.190.785651375
Synonymous1.59921140.8100.000005681144
Loss of Function2.961939.00.4870.00000192466

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005170.000512
Ashkenazi Jewish0.000.00
East Asian0.0001630.000163
Finnish0.0003240.000323
European (Non-Finnish)0.0003160.000308
Middle Eastern0.0001630.000163
South Asian0.0001710.000163
Other0.0006690.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: Epoxide hydrolase that catalyzes the final step in the biosynthesis of the proinflammatory mediator leukotriene B4. Has also aminopeptidase activity. {ECO:0000269|PubMed:11917124, ECO:0000269|PubMed:12207002, ECO:0000269|PubMed:15078870, ECO:0000269|PubMed:18804029, ECO:0000269|PubMed:1897988, ECO:0000269|PubMed:1975494, ECO:0000269|PubMed:2244921}.;
Pathway
Arachidonic acid metabolism - Homo sapiens (human);Leukotriene modifiers pathway, Pharmacodynamics;Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Diflunisal Action Pathway;Leukotriene C4 Synthesis Deficiency;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Eicosanoid Synthesis;Neutrophil degranulation;Metabolism of lipids;Prostaglandin Leukotriene metabolism;Synthesis of Leukotrienes (LT) and Eoxins (EX);Arachidonic acid metabolism;Innate Immune System;Immune System;Metabolism;Biosynthesis of E-series 18(S)-resolvins;Biosynthesis of E-series 18(R)-resolvins;Biosynthesis of EPA-derived SPMs;Biosynthesis of D-series resolvins;Biosynthesis of aspirin-triggered D-series resolvins;Biosynthesis of protectins;Biosynthesis of DHA-derived SPMs;Biosynthesis of specialized proresolving mediators (SPMs);Fatty acid metabolism;leukotriene biosynthesis (Consensus)

Recessive Scores

pRec
0.208

Intolerance Scores

loftool
0.814
rvis_EVS
0.02
rvis_percentile_EVS
55.45

Haploinsufficiency Scores

pHI
0.120
hipred
N
hipred_score
0.492
ghis
0.486

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.999

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Lta4h
Phenotype
immune system phenotype;

Zebrafish Information Network

Gene name
lta4h
Affected structure
epiboly involved in gastrulation with mouth forming second
Phenotype tag
abnormal
Phenotype quality
delayed

Gene ontology

Biological process
proteolysis;leukotriene metabolic process;leukotriene biosynthetic process;long-chain fatty acid biosynthetic process;peptide catabolic process;neutrophil degranulation;cellular lipid metabolic process;cellular protein metabolic process
Cellular component
extracellular region;nucleus;nucleoplasm;cytosol;extracellular exosome;tertiary granule lumen;ficolin-1-rich granule lumen
Molecular function
RNA binding;aminopeptidase activity;epoxide hydrolase activity;leukotriene-A4 hydrolase activity;protein binding;peptidase activity;zinc ion binding;metalloaminopeptidase activity