ABCD3 p.Glu55Lys
| Predicted by SNAP2: | A: N (87%), C: N (72%), D: N (93%), F: N (61%), G: N (82%), H: N (93%), I: N (87%), K: N (93%), L: N (87%), M: N (82%), N: N (93%), P: N (87%), Q: N (97%), R: N (87%), S: N (93%), T: N (93%), V: N (93%), W: N (57%), Y: N (61%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, F: D, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D, |
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[hide] Catalase-less peroxisomes. Implication in the mild... J Biol Chem. 2000 Nov 24;275(47):37271-7. Fujiwara C, Imamura A, Hashiguchi N, Shimozawa N, Suzuki Y, Kondo N, Imanaka T, Tsukamoto T, Osumi T
Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder.
J Biol Chem. 2000 Nov 24;275(47):37271-7., [PMID:10960480]
Abstract [show]
We established a Chinese hamster ovary cell line having a temperature-sensitive phenotype in peroxisome biogenesis. This mutant (65TS) was produced by transforming a PEX2-defective mutant, Z65, with a mutant PEX2 gene, PEX2(E55K), derived from a patient with infantile Refsum disease, a milder form of peroxisome biogenesis disorder. In 65TS, catalase was found in the cytosol at a nonpermissive temperature (39 degrees C), but upon the shift to a permissive temperature (33 degrees C), catalase gradually localized to the structures containing a 70-kDa peroxisomal membrane protein, PMP70. In contrast to catalase, other matrix proteins containing typical peroxisome targeting signals, acyl-CoA oxidase and peroxisomal 3-ketoacyl-CoA thiolase, were co-localized with PMP70 in most cells, even at 39 degrees C. We found that these structures are partially functional peroxisomes and named them "catalase-less peroxisomes." Catalase-less peroxisomes were also observed in human fibroblasts from patients with milder forms of peroxisome biogenesis disorder, including the one from which the mutant PEX2 gene was derived. We suggest that these structures are the causes of the milder phenotypes of the patients. Temperature-dependent restoration of the peroxisomes in 65TS occurred even in the presence of cycloheximide, a protein synthesis inhibitor. Thus, we conclude that in 65TS, catalase-less peroxisomes are the direct precursors of peroxisomes.
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No. Sentence Comment
79 Patient F-01 was homozygous for the R119Stop mutation (42), whereas F-05 was a heterozygote of E55K and R119Stop mutations (12).
X
ABCD3 p.Glu55Lys 10960480:79:95
status: NEW78 Patient F-01 was homozygous for the R119Stop mutation (42), whereas F-05 was a heterozygote of E55K and R119Stop mutations (12).
X
ABCD3 p.Glu55Lys 10960480:78:95
status: NEW