enoyl-CoA hydratase [Homo sapiens]

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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. Version 2. 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.
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report. [BMC Med Genet. 2020]
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
Sun D, Liu Z, Liu Y, Wu M, Fang F, Deng X, Liu Z, Song L, Murayama K, Zhang C, et al. BMC Med Genet. 2020 Jul 16; 21(1):149. Epub 2020 Jul 16.

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).

Nucleotide
Nucleotide sequence from coding region
PubMed
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Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
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Conserved Domains (Concise)
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Gene
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Identical Structures
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Related Structures (Summary)
Related structures

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
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

enoyl-CoA hydratase [Homo sapiens]
enoyl-CoA hydratase [Homo sapiens]
gi|1922287|emb|CAA66808.1|

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