RecName: Full=Enoyl-CoA hydratase, mitochondrial; Short=mECH; Short=mE - Protein (original) (raw)
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RecName: Full=Enoyl-CoA hydratase, mitochondrial; Short=mECH; Short=mECH1; AltName: Full=Enoyl-CoA hydratase 1; Short=ECHS1; AltName: Full=Short-chain enoyl-CoA hydratase; Short=SCEH; Flags: Precursor
UniProtKB/Swiss-Prot: P30084.4
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Articles about the ECHS1 gene
- Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity. [Metab Brain Dis. 2024]
Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Maalej M, Sfaihi L, Fersi OA, Khabou B, Ammar M, Felhi R, Kharrat M, Chouchen J, Kammoun T, Tlili A, et al. Metab Brain Dis. 2024 Apr; 39(4):611-623. Epub 2024 Feb 16. - ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder. [Am J Med Genet A. 2021]
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE, Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group, et al. Am J Med Genet A. 2021 Jan; 185(1):157-167. Epub 2020 Oct 28. - Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. [Eur J Med Genet. 2020]
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
Illsinger S, Korenke GC, Boesch S, Nocker M, Karall D, Nuoffer JM, Laugwitz L, Mayr JA, Scholl-Bürgi S, Freisinger P, et al. Eur J Med Genet. 2020 Nov; 63(11):104046. Epub 2020 Aug 26.
Reference sequence information
- RefSeq genomic sequence
See the genomic reference sequence for the ECHS1 gene (NG_042077.1). - RefSeq protein
See the reference protein sequence for enoyl-CoA hydratase, mitochondrial (NP_004083.3).
More about the ECHS1 gene
Related information
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PubMed articles cited by protein sequence record - Taxonomy
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List of related structures
LinkOut to external resources
- P30084 [Domain Mapping of Disease Mut...]
P30084
Domain Mapping of Disease Mutations - MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) - Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents
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reagent reviews
ExactAntigen/Labome - Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site
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