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Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. Zusätzlich bieten wir Ihnen SUCLA2 Antikörper (26) und und viele weitere Produktgruppen zu diesem Protein an.
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Sucla2(SAbetageo) homozygotes exhibited recessive lethality, with most mutants dying late in gestation (e18.5). Mutant placenta and embryonic (e17.5) brain, heart and muscle showed varying degrees of mitochondrial DNA depletion.
ADP and GDP succinyl-CoA (zeige OXCT1 Proteine) synthetases have different expression patterns and specificity
SUCLA2 mutation is associated with Down syndrome and mitochondrial depletion syndrome.
The patient's cells lack the SUCLG1 (zeige SUCLG1 Proteine) protein, with significantly reduced levels of SUCLA2 and SUCLG2 (zeige SUCLG2 Proteine) protein
Sucla2 is related to the developmental stages of mouse spermatogenesis. Knockdown of Sucla2 decreases the viability of mouse spermatocytes by inducing apoptosis via decreased mitochondrial function of the cells.
Long survival, to age 20 years or older, was reported in 12% of SUCLA2 and in 10% of SUCLG1 (zeige SUCLG1 Proteine) patients.
XDH (zeige XDH Proteine) and SUCLA2 genes associated with thiopurine-induced leukopenia can act in a complex interactive manner in patients with Crohn's disease.
The absence of SUCLA2 and SUCLG2 (zeige SUCLG2 Proteine) in human glia is in compliance with the presence of alternative pathways occurring in these cells, namely the GABA shunt and ketone body metabolism
SUCLA2 mutations should be analyzed in patients with slowly progressive encephalomyopathy, even in the absence of methylmalonic aciduria or mitochondrial DNA depletion.
This study demonstrated that SUCLA2 is expressed exclusively in neurons in the human cerebral cortex.
Identification of a novel mutation in SUCLA2 in two cousins affected with encephalomyopathy, is reported.
A novel homozygous mutation in SUCLA2 gene has been associated with severe mitochondrial encephalomyopathies in two Italian siblings.
Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6.
ATP-specific succinyl-CoA synthetase subunit beta
, succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial
, succinyl-CoA synthetase beta-A chain
, ATP-specific succinyl-CoA synthetase, beta subunit
, mitochondrial succinyl-CoA ligase [ADP-forming] subunit beta
, renal carcinoma antigen NY-REN-39
, ATP-specific succinyl-CoA synthetase beta
, Succinyl-CoA ligase [ADP-forming] beta-chain, mitochondrial