Version: 8.1.0Date: Fri Apr 18 2025
Category
ech-1.2
(Caenorhabditis elegans)Gene
Name: Enoyl-CoA Hydratase 1.2
Synonyms: T08B2.7, CELE_T08B2.7
Source: WB:WBGene00020347
Biotype: protein coding gene
Symbol: ech-1.2 (Cel)
Symbol: ech-1.2
Gene Synopsis: ech-1.2 encodes one of two C. elegans enoyl-CoA hydratases/long-chain 3-hydroxyacyl-CoA dehydrogenases
Cross References: ech-1.2...WB:ech-1.2...ech-1.2
HADHA
(Homo sapiens)Gene
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Synonyms: trifunctional enzyme subunit alpha, mitochondrial, hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit, mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit, mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit, long-chain-3-hydroxyacyl-CoA dehydrogenase, hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a hiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit, mitochondrial trifunctional enzyme, alpha subunit, 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit, GBP, 3-oxoacyl-CoA thiolase, hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit, ECHA, 78 kDa gastrin-binding protein, LCEH, LCHAD, TP-ALPHA, MGC1728, mitochondrial trifunctional protein, alpha subunit, HADH, long-chain 2-enoyl-CoA hydratase, MTPA, gastrin-binding protein, monolysocardiolipin acyltransferase
Source: HGNC:4801
Biotype: protein coding gene
Strict Orthology Symbols: ech-1.2
hadhaa
(Danio rerio)Gene
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha a
Synonyms: hadha, cb1055, wu:fa14c08, im:7136067
Source: ZFIN:ZDB-GENE-031222-5
Biotype: protein coding gene
Strict Orthology Symbols: ech-1.2
hadhab
(Danio rerio)Gene
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha b
Synonyms: im:7144234, zgc:158138
Source: ZFIN:ZDB-GENE-041111-204
Biotype: protein coding gene
Strict Orthology Symbols: ech-1.2
Hadha
(Mus musculus)Gene
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Synonyms: expressed sequence C77020, RGD1560655, Mtpa, C77020
Source: MGI:2135593
Biotype: protein coding gene
Strict Orthology Symbols: ech-1.2
MtpĪ±
(Drosophila melanogaster)Gene
Name: Mitochondrial trifunctional protein alpha subunit
Synonyms: Mtpalpha, Hadha, CG4389, HADHA, BcDNA:GH12558, CG 4389, Mtp alpha, LBP
Source: FB:FBgn0028479
Biotype: protein coding gene
Strict Orthology Symbols: ech-1.2
Hadha
(Rattus norvegicus)Gene
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Synonyms: trifunctional enzyme subunit alpha, mitochondrial, hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A hiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit, TP-alpha, hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit, hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit, RGD1560655, MGC105338, monolysocardiolipin acyltransferase
Source: RGD:620512
Biotype: protein coding gene
Strict Orthology Symbols: ech-1.2
hadha
(Xenopus tropicalis)Gene
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Synonyms: hadha, hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Source: Xenbase:XB-GENE-959219
Biotype: gene
Strict Orthology Symbols: ech-1.2
Source: DOID:0070619
Definition: A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.
Genes: ech-1.2 (Cel)
Gene Ontology
Source: GO:0016509
Synonyms:
- LCHAD
- beta-hydroxyacyl-CoA dehydrogenase activity
Branch: molecular function
Genes: ech-1.2 (Cel)
Source: GO:0016507
Synonyms:
- fatty acid beta-oxidation multienzyme complex
- trifunctional enzyme
Branch: cellular component
Genes: ech-1.2 (Cel)
Gene Ontology
Source: GO:0003857
Synonyms:
- 3-oxoacyl-thioester reductase activity
- L-3-hydroxyacyl CoA dehydrogenase activity
Branch: molecular function
Genes: ech-1.2 (Cel)
Gene Ontology
Source: GO:0004300
Synonyms:
- (3S)-3-hydroxyacyl-CoA hydro-lyase activity
- 2-enoyl-CoA hydratase activity
Branch: molecular function
Genes: ech-1.2 (Cel)
Gene Ontology
Source: GO:0070403
Synonyms:
- NAD (oxidized) binding
- NAD binding
Branch: molecular function
Genes: ech-1.2 (Cel)
Disease
Source: DOID:3146
Definition: An inherited metabolic disorder that involves the creation and degradation of lipids.
Genes: ech-1.2 (Cel)
Source: GO:0016616
Synonyms: Not Available
Branch: molecular function
Genes: ech-1.2 (Cel)
Gene Ontology
Source: GO:0006635
Synonyms: Not Available
Branch: biological process
Genes: ech-1.2 (Cel)
Gene Ontology
Source: GO:0016829
Synonyms: Not Available
Branch: molecular function
Genes: ech-1.2 (Cel)
Gene Ontology
Source: GO:0006631
Synonyms:
- fatty acid metabolism
Branch: biological process
Genes: ech-1.2 (Cel)
Disease
Source: DOID:9452
Definition: A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
Genes: ech-1.2 (Cel)
Source: DOID:0080208
Definition: A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.
Genes: ech-1.2 (Cel)
Gene Ontology
Source: GO:0016491
Synonyms:
- oxidoreductase activity, acting on other substrates
- redox activity
Branch: molecular function
Genes: ech-1.2 (Cel)
(WBcel235)I:6207901G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207901G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207901G>A
Gene Cross References: ech-1.2
(WBcel235)I:6209345G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6209345G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6209345G>A
Gene Cross References: ech-1.2
(WBcel235)I:6207015C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207015C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207015C>T
Gene Cross References: ech-1.2
(WBcel235)I:6208394C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208394C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208394C>T
Gene Cross References: ech-1.2
(WBcel235)I:6210631G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6210631G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6210631G>A
Gene Cross References: ech-1.2
(WBcel235)I:6207287C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207287C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207287C>T
Gene Cross References: ech-1.2
(WBcel235)I:6208368G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208368G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208368G>A
Gene Cross References: ech-1.2
(WBcel235)I:6207870C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207870C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207870C>T
Gene Cross References: ech-1.2
(WBcel235)I:6210727A>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6210727A>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6210727A>T
Gene Cross References: ech-1.2
(WBcel235)I:6211117C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6211117C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 5_prime_UTR_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6211117C>T
Gene Cross References: ech-1.2
(WBcel235)I:6207346G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207346G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207346G>A
Gene Cross References: ech-1.2
(WBcel235)I:6207229G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207229G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207229G>A
Gene Cross References: ech-1.2
(WBcel235)I:6207715C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207715C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207715C>T
Gene Cross References: ech-1.2
(WBcel235)I:6207374C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207374C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207374C>T
Gene Cross References: ech-1.2
(WBcel235)I:6209040T>C
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6209040T>C
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6209040T>C
Gene Cross References: ech-1.2
(WBcel235)I:6208221A>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208221A>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208221A>T
Gene Cross References: ech-1.2
(WBcel235)I:6210131G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6210131G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6210131G>A
Gene Cross References: ech-1.2
(WBcel235)I:6211069C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6211069C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6211069C>T
Gene Cross References: ech-1.2
(WBcel235)I:6208897C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208897C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208897C>T
Gene Cross References: ech-1.2
(WBcel235)I:6207676C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207676C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207676C>T
Gene Cross References: ech-1.2
(WBcel235)I:6208672G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208672G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208672G>A
Gene Cross References: ech-1.2
(WBcel235)I:6207713C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207713C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207713C>T
Gene Cross References: ech-1.2
(WBcel235)I:6208567C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208567C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208567C>T
Gene Cross References: ech-1.2
(WBcel235)I:6208997G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208997G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208997G>A
Gene Cross References: ech-1.2
(WBcel235)I:6207758G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6207758G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6207758G>A
Gene Cross References: ech-1.2
(WBcel235)I:6208270C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208270C>T
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208270C>T
Gene Cross References: ech-1.2
(WBcel235)I:6208278A>C
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208278A>C
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208278A>C
Gene Cross References: ech-1.2
(WBcel235)I:6208938G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003279.8:g.6208938G>A
Genes: ech-1.2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)I:6208938G>A
Gene Cross References: ech-1.2