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Results 1 - 7 of 7
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EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.211E510Q naturally occuring common homozygous mutation in the trifunctional protein alpha-subunit gene HADHA (hydroxyacyl-CoA dehydrogenase), c.1528G>C, affects the long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity of trifunctional protein and causes blindness in infancy due to LCHAD deficiency in the retinal pigment epithelium, phenotype, overview 740557
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.211E510Q naturally occuring mutation responsible for LCHAD deficiency 740890
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.211G1528C a common polymorphism, which is probably not involved in enzyme deficiency in acute fatty liver in pregnancy 688119
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.211more identifications of gestation infant mutations in LCHAD, the placentas with maternal floor infarction/massive perivillous fibrin phenotype, MFI/MPVFD, demonstrate heterozygous mutations in the LCHAD gene, phenotypes, overview 723341
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.211more mutations, e.g. C901G, C1528G, or deletion of nucleotides 274 to 278, involved in development of the severe chorioretinopathy in humans which show only residual or no remaining enzyme activity, retinal phenotypes in enzyme deficient children, overview 670281
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.211more when gene encoding 3-hydroxyacyl-CoA dehydrogenase is partially or completely deleted, the polyhydroxyalkanoate accumulated has only two different monomer structures dominated by a monomer of the same chain length as that of the fatty acids fed and another monomer two carbon atoms shorter. Disruption of the 3-hydroxyacyl-CoA dehydrogenase gene dramatically reduces conversion of S-3-OH-acyl-CoA to ketoacyl-CoA, resulting in reduced beta-oxidation flux, thus, leading to the accumulation of other intermediates including enoyl-CoA which are used by the bacteria to synthesize polyhydroxyalkanoate -, 696790
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.211Q358K heterozygous mutation in exon 11, 1072C/A, a naturally mutation occuring in the LCHAD coding region, HADHA, causing growth-restriction in a 25-4/7 week gestation female infant 723341
Results 1 - 7 of 7
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