Datasheet

生物学的記述

Specificity	ECHS1 Antibody [N10G4] detects endogenous levels of total ECHS1 protein.
Background	ECHS1, or mitochondrial short-chain enoyl-CoA hydratase 1, serves as a core enzyme in the fatty acid β-oxidation spiral and branched-chain amino acid catabolism, particularly valine degradation, within the crotonase superfamily. The protein forms a compact barrel-like structure with a Rossmann fold for CoA ester binding and catalytic His-Asp dyad for proton abstraction, enabling stereospecific hydration of trans-2-enoyl-CoA thioesters. It catalyzes the second step of β-oxidation by adding water across the α-β double bond of medium- and short-chain enoyl-CoA (C4-C16) to generate L-3-hydroxyacyl-CoA, feeding downstream hydroxyacyl-CoA dehydrogenase and thiolase for acetyl-CoA production that enters the TCA cycle. High specificity targets methacrylyl-CoA from valine (yielding 2-methyl-3-hydroxybutyryl-CoA) and crotonyl-CoA from isoleucine/butyrate, though tiglyl-CoA binds without efficient turnover; multifunctional activity also handles leucine's 3-methylcrotonyl-CoA. Expressed ubiquitously but enriched in high-energy tissues like heart, muscle, and brain, ECHS1 maintains mitochondrial bioenergetics by linking lipid/amino acid oxidation to OXPHOS, with palmitate loading unmasking short-chain defects via butyrylcarnitine accumulation. Deficiency blocks these pathways, elevating toxic acryloyl-CoA/methacryloyl-CoA and 2-methyl-2,3-dihydroxybutyric acid in urine, secondary OXPHOS complex reductions (I/II/IV), lactate elevation, and Leigh-like basal ganglia lesions with cardiomyopathy, epilepsy, and encephalopathy. Patient fibroblasts show diminished protein/activity, while structural variants disrupt active site or tetramerization, linking to mitochondrial encephalopathy treatable potentially via metabolic interventions.

Specificity

ECHS1 Antibody [N10G4] detects endogenous levels of total ECHS1 protein.

Background

ECHS1, or mitochondrial short-chain enoyl-CoA hydratase 1, serves as a core enzyme in the fatty acid β-oxidation spiral and branched-chain amino acid catabolism, particularly valine degradation, within the crotonase superfamily. The protein forms a compact barrel-like structure with a Rossmann fold for CoA ester binding and catalytic His-Asp dyad for proton abstraction, enabling stereospecific hydration of trans-2-enoyl-CoA thioesters. It catalyzes the second step of β-oxidation by adding water across the α-β double bond of medium- and short-chain enoyl-CoA (C4-C16) to generate L-3-hydroxyacyl-CoA, feeding downstream hydroxyacyl-CoA dehydrogenase and thiolase for acetyl-CoA production that enters the TCA cycle. High specificity targets methacrylyl-CoA from valine (yielding 2-methyl-3-hydroxybutyryl-CoA) and crotonyl-CoA from isoleucine/butyrate, though tiglyl-CoA binds without efficient turnover; multifunctional activity also handles leucine's 3-methylcrotonyl-CoA. Expressed ubiquitously but enriched in high-energy tissues like heart, muscle, and brain, ECHS1 maintains mitochondrial bioenergetics by linking lipid/amino acid oxidation to OXPHOS, with palmitate loading unmasking short-chain defects via butyrylcarnitine accumulation. Deficiency blocks these pathways, elevating toxic acryloyl-CoA/methacryloyl-CoA and 2-methyl-2,3-dihydroxybutyric acid in urine, secondary OXPHOS complex reductions (I/II/IV), lactate elevation, and Leigh-like basal ganglia lesions with cardiomyopathy, epilepsy, and encephalopathy. Patient fibroblasts show diminished protein/activity, while structural variants disrupt active site or tetramerization, linking to mitochondrial encephalopathy treatable potentially via metabolic interventions.

使用情報

Application

WB, IP, IHC, IF

Dilution

WB	IP	IHC	IF
1:2000-1:20000	1:900-1:7500	1:50-1:1000	1:400-1:1600

Reactivity

Human

Source

Mouse Monoclonal Antibody

MW

31 kDa

Storage Buffer

PBS, pH 7.2+50% Glycerol+0.05% BSA+0.01% NaN3

Storage
(from the date of receipt)

-20°C (avoid freeze-thaw cycles), 2 years

プロトコール

References

https://pubmed.ncbi.nlm.nih.gov/40446940/
https://pubmed.ncbi.nlm.nih.gov/26000322/

ECHS1 Antibody [N10G4]

生物学的記述

使用情報

References

Application Data