ACADS (基因名), Short-chain specific acyl-CoA dehydrogenase, mitochondrial (蛋白名), ACADS_HUMAN.
Human ACADS/ Short-chain specific acyl-CoA dehydrogenase, mitochondrial ELISA Kit
SCAD, Butyryl-CoA dehydrogenase
Natural and recombinant human Short-chain specific acyl-CoA dehydrogenase, mitochondrial
Serum, plasma, tissue homogenates, cell culture supernates and other biological fluids
Introduces a double bond at position 2 in saturated acyl-CoA's of short chain length, i.e. less than 6 carbon atoms.
MAAALLARAS | GPARRALCPR | AWRQLHTIYQ | SVELPETHQM | LLQTCRDFAE |
KELFPIAAQV | DKEHLFPAAQ | VKKMGGLGLL | AMDVPEELGG | AGLDYLAYAI |
AMEEISRGCA | STGVIMSVNN | SLYLGPILKF | GSKEQKQAWV | TPFTSGDKIG |
CFALSEPGNG | SDAGAASTTA | RAEGDSWVLN | GTKAWITNAW | EASAAVVFAS |
TDRALQNKGI | SAFLVPMPTP | GLTLGKKEDK | LGIRGSSTAN | LIFEDCRIPK |
DSILGEPGMG | FKIAMQTLDM | GRIGIASQAL | GIAQTALDCA | VNYAENRMAF |
GAPLTKLQVI | QFKLADMALA | LESARLLTWR | AAMLKDNKKP | FIKEAAMAKL |
AASEAATAIS | HQAIQILGGM | GYVTEMPAER | HYRDARITEI | YEGTSEIQRL |
VIAGHLLRSY | RS
"The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots."
"The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots."
"Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency."
"Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria."
"Structural organization of the human short-chain acyl-CoA dehydrogenase gene."
"Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency."
"Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency."
"The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose load."
"A genome-wide perspective of genetic variation in human metabolism."
"Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress."
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