کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2817394 | 1159985 | 2013 | 6 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1 Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1](/preview/png/2817394.png)
Deficiency in the PTS2 protein import pathway due to mutations in PEX7 gene results in the rhizomelic chondrodysplasia punctata (RCDP) type 1. In the present study, we have reported a novel missense mutation, W75R, in the PEX7 gene in an Iranian patient with the RCDP type 1. The inability of PEX7 protein to transport PTS2 containing proteins including peroxisomal 3-ketoacyl-CoA thiolase and PTS2-EGFP protein to the surface of the peroxisomes showed that the W75R mutation in PEX7 gene severely impaired the function of PEX7 protein and was responsible for RCDP type 1 in this patient.
► A new homozygous mutation of PEX7 gene was identified in a patient with RCDP type 1.
► This mutation was found in WD1 repeat motif of PEX7 protein.
► This mutation severely impaired the function of PEX7 protein.
Journal: Gene - Volume 518, Issue 2, 15 April 2013, Pages 461–466