Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1
| Autor: | Kazem Parivar, Somayeh Tanhaie, Kamran Ghaedi, Farzaneh Rabiee, Fereshteh Karamali, Ahmad Salamian, Hossein Baharvand, Yousef Shafeghati, Mohammad Hossein Nasr-Esfahani, Parisa Mohamadynejad |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Molecular Sequence Data Mutation Missense Receptors Cytoplasmic and Nuclear Biology Iran medicine.disease_cause Genetics medicine Missense mutation Humans Amino Acid Sequence Gene Cells Cultured Peroxisomal Targeting Signal 2 Receptor Mutation Rhizomelic chondrodysplasia punctata Base Sequence Chondrodysplasia Punctata Rhizomelic Thiolase Peroxisome Targeting Signal 2 General Medicine Sequence Analysis DNA Peroxisome medicine.disease Acetyl-CoA C-Acyltransferase Protein Transport Child Preschool Sequence Alignment |
| Zdroj: | Gene. 518(2) |
| ISSN: | 1879-0038 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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