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Aliases for ECHS1 Gene

Aliases for ECHS1 Gene

  • Enoyl-CoA Hydratase, Short Chain 1 2 3 5
  • Enoyl Coenzyme A Hydratase, Short Chain, 1, Mitochondrial 2 3
  • Enoyl-CoA Hydratase, Short Chain, 1, Mitochondrial 2 3
  • Short Chain Enoyl-CoA Hydratase 2 3
  • EC 4.2.1.17 4 58
  • SCEH 3 4
  • Enoyl-CoA Hydratase, Mitochondrial 3
  • Short-Chain Enoyl-CoA Hydratase 4
  • Enoyl-CoA Hydratase 1 4
  • EC 4.2.1 58
  • ECHS1D 3

External Ids for ECHS1 Gene

Previous GeneCards Identifiers for ECHS1 Gene

  • GC10M134090
  • GC10M134305
  • GC10M135092
  • GC10M134649
  • GC10M135064
  • GC10M135025
  • GC10M135175
  • GC10M128720

Summaries for ECHS1 Gene

Entrez Gene Summary for ECHS1 Gene

  • The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

GeneCards Summary for ECHS1 Gene

ECHS1 (Enoyl-CoA Hydratase, Short Chain 1) is a Protein Coding gene. Diseases associated with ECHS1 include Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency and Leigh Syndrome With Leukodystrophy. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA. GO annotations related to this gene include enoyl-CoA hydratase activity. An important paralog of this gene is ECHDC2.

UniProtKB/Swiss-Prot for ECHS1 Gene

  • Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate.

Gene Wiki entry for ECHS1 Gene

Additional gene information for ECHS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECHS1 Gene

Genomics for ECHS1 Gene

Regulatory Elements for ECHS1 Gene

Enhancers for ECHS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H133273 1.8 FANTOM5 ENCODE dbSUPER 8.7 +96.5 96487 7 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZBTB7B ZNF143 ZNF207 FOS JUNB ADAM8 TUBGCP2 ECHS1 VENTX ENSG00000235245 CFAP46 GC10P133285 PIR44208
GH10H133334 1.2 Ensembl ENCODE 11.4 +37.9 37928 2 ATF1 ZNF473 ZSCAN4 KLF17 SIN3A GLI4 BMI1 ZNF23 GLIS2 EGR1 SCART1 ZNF511 PAOX ECHS1 TUBGCP2 VENTX MTG1 FUOM CALY GC10M133326
GH10H133372 1 ENCODE 12.7 -0.2 -160 1 HDGF ARID4B SIN3A GLI4 BRCA1 YY1 GLIS2 ZNF207 KLF7 SP3 ECHS1 ENSG00000274685
GH10H133377 1 ENCODE 11.9 -5.2 -5187 2 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 ZNF207 SP3 ZHX2 ECHS1 SCART1 PAOX MTG1 PIR35409
GH10H133257 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.9 +113.3 113271 6 HDGF ATF1 SIN3A BRCA1 ZNF766 GLIS2 ELK1 ZNF143 FOS ATF7 TUBGCP2 VENTX ENSG00000235245 SCART1 ZNF511 ADAM8 ECHS1 ENSG00000273980
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ECHS1 on UCSC Golden Path with GeneCards custom track

Promoters for ECHS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035548 389 1801 HDGF ARID4B SIN3A GLI4 BRCA1 YY1 GLIS2 ZNF207 KLF7 SP3

Genomic Location for ECHS1 Gene

Chromosome:
10
Start:
133,362,480 bp from pter
End:
133,373,689 bp from pter
Size:
11,210 bases
Orientation:
Minus strand

Genomic View for ECHS1 Gene

Genes around ECHS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECHS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECHS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECHS1 Gene

Proteins for ECHS1 Gene

  • Protein details for ECHS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30084-ECHM_HUMAN
    Recommended name:
    Enoyl-CoA hydratase, mitochondrial
    Protein Accession:
    P30084
    Secondary Accessions:
    • O00739
    • Q5VWY1
    • Q96H54

    Protein attributes for ECHS1 Gene

    Size:
    290 amino acids
    Molecular mass:
    31387 Da
    Quaternary structure:
    • Homohexamer; dimer of trimers.

    Three dimensional structures from OCA and Proteopedia for ECHS1 Gene

neXtProt entry for ECHS1 Gene

Selected DME Specific Peptides for ECHS1 Gene

P30084:
  • IAAVNGYA
  • VGKSLAMEMVLTGDRISAQDAKQAGLVSKI
  • ELAMMCDIIYAGEKA
  • KLEKKLFYSTFAT
  • AFVEKRKANFKD
  • FAAGADIKEM
  • AMAKESVNAAFEMTL
  • GGCELAM

Post-translational modifications for ECHS1 Gene

  • Ubiquitination at isoforms=261
  • Modification sites at PhosphoSitePlus

Other Protein References for ECHS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ECHS1 Gene

Gene Families for ECHS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ECHS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30084

UniProtKB/Swiss-Prot:

ECHM_HUMAN :
  • Belongs to the enoyl-CoA hydratase/isomerase family.
Family:
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with ECHS1: view

Function for ECHS1 Gene

Molecular function for ECHS1 Gene

GENATLAS Biochemistry:
mitochondrial short chain enoyl-CoA hydratase,fatty acid beta-oxidation
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=12.75 uM for crotonyl-CoA {ECO:0000269 PubMed:26251176}; KM=34.04 uM for acryloyl-CoA {ECO:0000269 PubMed:26251176}; KM=45.83 uM for 3-Methylcrotonyl-CoA {ECO:0000269 PubMed:26251176}; KM=57.87 uM for tiglyl-CoA {ECO:0000269 PubMed:26251176}; Vmax=54.64 umol/min/mg enzyme toward crotonyl-CoA {ECO:0000269 PubMed:26251176}; Vmax=42.92 umol/min/mg enzyme toward acryloyl-CoA {ECO:0000269 PubMed:26251176}; Vmax=49.02 umol/min/mg enzyme toward 3-Methylcrotonyl-CoA {ECO:0000269 PubMed:26251176}; Vmax=6.66 umol/min/mg enzyme toward tiglyl-CoA {ECO:0000269 PubMed:26251176};
UniProtKB/Swiss-Prot CatalyticActivity:
(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O.
UniProtKB/Swiss-Prot Function:
Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate.

Enzyme Numbers (IUBMB) for ECHS1 Gene

Phenotypes From GWAS Catalog for ECHS1 Gene

Gene Ontology (GO) - Molecular Function for ECHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004300 enoyl-CoA hydratase activity TAS --
GO:0005515 protein binding IPI 14557246
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with ECHS1: view
genes like me logo Genes that share phenotypes with ECHS1: view

Human Phenotype Ontology for ECHS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ECHS1

CRISPR Products

miRNA for ECHS1 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ECHS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ECHS1 Gene

Localization for ECHS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECHS1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECHS1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
peroxisome 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ECHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 16130169
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ECHS1: view

Pathways & Interactions for ECHS1 Gene

genes like me logo Genes that share pathways with ECHS1: view

UniProtKB/Swiss-Prot P30084-ECHM_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ECHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS,IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ECHS1: view

No data available for SIGNOR curated interactions for ECHS1 Gene

Drugs & Compounds for ECHS1 Gene

(6) Drugs for ECHS1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
4-(N,N-Dimethylamino)Cinnamoyl-Coa Experimental Pharma Target 0
Acetoacetyl-CoA Experimental Pharma Target 0
Hexanoyl-CoA Experimental Pharma Target 0
Octanoyl-Coenzyme A Experimental Pharma Target 0

(32) Additional Compounds for ECHS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with ECHS1: view

Transcripts for ECHS1 Gene

mRNA/cDNA for ECHS1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(648) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ECHS1 Gene

Enoyl CoA hydratase, short chain, 1, mitochondrial:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ECHS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ECHS1 Gene

No ASD Table

Relevant External Links for ECHS1 Gene

GeneLoc Exon Structure for
ECHS1
ECgene alternative splicing isoforms for
ECHS1

Expression for ECHS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ECHS1 Gene

mRNA differential expression in normal tissues according to GTEx for ECHS1 Gene

This gene is overexpressed in Liver (x8.1) and Kidney - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for ECHS1 Gene

This gene is overexpressed in Liver (12.6), Liver, secretome (9.5), and Kidney (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ECHS1 Gene



Protein tissue co-expression partners for ECHS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ECHS1 Gene:

ECHS1

SOURCE GeneReport for Unigene cluster for ECHS1 Gene:

Hs.76394

mRNA Expression by UniProt/SwissProt for ECHS1 Gene:

P30084-ECHM_HUMAN
Tissue specificity: Liver, fibroblast, muscle. Barely detectable in spleen and kidney.

Evidence on tissue expression from TISSUES for ECHS1 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Pancreas(3.4)
  • Intestine(3.1)
  • Skin(3)
  • Kidney(2.5)
  • Lung(2.5)
  • Muscle(2.5)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ECHS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ECHS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ECHS1 Gene

Orthologs for ECHS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ECHS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ECHS1 33 34
  • 91.46 (n)
cow
(Bos Taurus)
Mammalia ECHS1 33 34
  • 85.75 (n)
mouse
(Mus musculus)
Mammalia Echs1 33 16 34
  • 85.06 (n)
rat
(Rattus norvegicus)
Mammalia Echs1 33
  • 84.71 (n)
dog
(Canis familiaris)
Mammalia ECHS1 33 34
  • 82.23 (n)
oppossum
(Monodelphis domestica)
Mammalia ECHS1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECHS1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECHS1 33 34
  • 70.21 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia echs1 33
  • 69.45 (n)
Str.11027 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.29004 33
zebrafish
(Danio rerio)
Actinopterygii echs1 33 34
  • 70.33 (n)
wufj55e05 33
fruit fly
(Drosophila melanogaster)
Insecta CG6543 35 33 34
  • 62.3 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011833 33
  • 62.27 (n)
worm
(Caenorhabditis elegans)
Secernentea T05G5.6 35
  • 61 (a)
ech-6 33 34
  • 59.92 (n)
Y105E8A.4 35
  • 57 (a)
ech-7 34
  • 55 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4297 34
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06448 33
  • 55.72 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7713 33
Species where no ortholog for ECHS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ECHS1 Gene

ENSEMBL:
Gene Tree for ECHS1 (if available)
TreeFam:
Gene Tree for ECHS1 (if available)

Paralogs for ECHS1 Gene

Paralogs for ECHS1 Gene

(4) SIMAP similar genes for ECHS1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ECHS1: view

Variants for ECHS1 Gene

Sequence variations from dbSNP and Humsavar for ECHS1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs201865375 Pathogenic, Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] 133,370,670(+) GTGCA(C/T)TGAGG reference, missense
rs371063211 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] 133,370,649(+) CGTCA(A/G)TCAGG reference, missense
rs375032130 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] 133,368,961(+) CAAAC(C/T)GGGCC reference, missense
rs375266808 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] 133,370,685(+) TGGGG(A/C/T)GGTTC reference, missense
rs565090080 Likely pathogenic, Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] 133,362,924(+) TTCTT(C/T)CCGGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ECHS1 Gene

Variant ID Type Subtype PubMed ID
dgv2e196 CNV duplication 17116639
dgv35e55 CNV gain 17911159
dgv3e196 CNV duplication 17116639
esv1004331 CNV deletion 20482838
esv1281382 CNV deletion 17803354
esv2662790 CNV deletion 23128226
esv2750853 CNV gain 17911159
esv2759793 CNV gain+loss 17122850
esv3625030 CNV gain 21293372
esv3625043 CNV gain 21293372
esv4876 CNV loss 18987735
nsv1037772 CNV gain 25217958
nsv1052904 CNV gain 25217958
nsv1070416 CNV deletion 25765185
nsv1121827 CNV deletion 24896259
nsv1134078 CNV deletion 24896259
nsv1135782 CNV deletion 24896259
nsv1146075 CNV deletion 26484159
nsv428243 CNV gain 18775914
nsv467509 CNV loss 19166990
nsv470980 CNV loss 18288195
nsv470981 CNV gain 18288195
nsv527785 CNV loss 19592680
nsv528260 CNV loss 19592680
nsv552589 CNV gain 21841781
nsv552644 CNV loss 21841781
nsv832036 CNV loss 17160897
nsv832040 CNV loss 17160897
nsv952707 CNV deletion 24416366

Variation tolerance for ECHS1 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECHS1 Gene

Human Gene Mutation Database (HGMD)
ECHS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECHS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECHS1 Gene

Disorders for ECHS1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ECHS1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial short-chain enoyl-coa hydratase 1 deficiency
  • echs1d
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
human monocytic ehrlichiosis
  • ehrlichiosis chafeensis
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards
Search ECHS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ECHM_HUMAN
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]: A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid. {ECO:0000269 PubMed:25125611, ECO:0000269 PubMed:25393721, ECO:0000269 PubMed:26000322, ECO:0000269 PubMed:26251176, ECO:0000269 PubMed:26741492, ECO:0000269 PubMed:27221955}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ECHS1

Genetic Association Database (GAD)
ECHS1
Human Genome Epidemiology (HuGE) Navigator
ECHS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECHS1
genes like me logo Genes that share disorders with ECHS1: view

No data available for Genatlas for ECHS1 Gene

Publications for ECHS1 Gene

  1. Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase. (PMID: 8012501) Kanazawa M … Hashimoto T (Enzyme & protein 1993) 2 3 4 22 60
  2. ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. (PMID: 25393721) Sakai C … Goto Y (Human mutation 2015) 2 3 4 60
  3. Human mitochondrial enoyl-CoA hydratase gene (ECHS1): structural organization and assignment to chromosome 10q26.2-q26.3. (PMID: 9073515) Janssen U … Stoffel W (Genomics 1997) 3 4 22 60
  4. Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. (PMID: 26251176) Yamada K … Wakamatsu N (Journal of medical genetics 2015) 3 4 60
  5. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. (PMID: 25125611) Peters H … Pitt J (Brain : a journal of neurology 2014) 3 4 60

Products for ECHS1 Gene

Sources for ECHS1 Gene

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