RecName: Full=Enoyl-CoA hydratase, mitochondrial; Short=mECH; Short=mE - Protein

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Protein 3D Structure

The crystal structure of human enoyl-coenzyme A (CoA) hydratase short chain 1, ECHS1

PDB: 2HW5

Source: Homo sapiens

Method: X-ray Diffraction

Resolution: 2.55 Å

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.

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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

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydra...
Also Known As: ECHS1D, SCEH, mECH, mECH1

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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)
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reagent reviews [ExactAntigen/Labome]
reagent reviews
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Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

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RecName: Full=Enoyl-CoA hydratase, mitochondrial; Short=mECH; Short=mECH1; AltNa...
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
gi|62906863|sp|P30084.4|ECHM_HUMAN

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RecName: Full=Lymphocyte-specific protein 1; AltName: Full=47 kDa actin-binding ...
RecName: Full=Lymphocyte-specific protein 1; AltName: Full=47 kDa actin-binding protein; AltName: Full=52 kDa phosphoprotein; Short=pp52; AltName: Full=Lymphocyte-specific antigen WP34
gi|462553|sp|P33241.1|LSP1_HUMAN

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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

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