Gene: ECHS1

Alternate names for this Gene: ECHS1D|SCEH

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q26.3

Description of this Gene: enoyl-CoA hydratase, short chain 1

Type of Gene: protein-coding

rs777218310 in ECHS1 gene and Dysmorphic features PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

PMID 28039521 2017 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

PMID 26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 28202214 2017 Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 26920905 2016 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

PMID 28755360 2018 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

PMID 27905109 2017 A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

PMID 26081110 2015 Clinical and biochemical characterization of four patients with mutations in ECHS1.

PMID 27090768 2016 Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

PMID 28409271 2017 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

rs758723288 in ECHS1 gene and Global developmental delay PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs7894051 in ECHS1 gene and Longevity PMID 25918517 2015 Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.

rs7100433 in ECHS1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1085307550 in ECHS1 gene and MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PMID 26251176 2015 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 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs777218310 in ECHS1 gene and Multiple congenital anomalies PMID 28755360 2018 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

PMID 26081110 2015 Clinical and biochemical characterization of four patients with mutations in ECHS1.

PMID 28202214 2017 Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

PMID 27090768 2016 Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

PMID 28039521 2017 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 28409271 2017 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

PMID 26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

PMID 26920905 2016 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 27905109 2017 A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

rs777218310 in ECHS1 gene and Muscle hypotonia PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 27090768 2016 Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

PMID 28755360 2018 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

PMID 28409271 2017 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

PMID 27905109 2017 A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

PMID 28202214 2017 Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PMID 26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 26920905 2016 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

PMID 28039521 2017 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

PMID 26081110 2015 Clinical and biochemical characterization of four patients with mutations in ECHS1.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

rs758723288 in ECHS1 gene and Seizures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs758723288 in ECHS1 gene and Sensorineural Hearing Loss (disorder) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs7100433 in ECHS1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7100433 in ECHS1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.