| First Author | Loeffen J | Year | 1999 |
| Journal | J Inherit Metab Dis | Volume | 22 |
| Issue | 1 | Pages | 19-28 |
| PubMed ID | 10070614 | Mgi Jnum | J:56233 |
| Mgi Id | MGI:1340452 | Doi | 10.1023/a:1005434912463 |
| Citation | Loeffen J, et al. (1999) The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients. J Inherit Metab Dis 22(1):19-28 |
| abstractText | We have cloned the cDNA of the NDUFS5 subunit (15 kDa) of the human mitochondrial respiratory chain complex NADH: ubiquinone oxidoreductase (complex I). The open reading frame consists of 321 base-pairs, coding for 106 amino acids, with a calculated molecular mass of 12.5 kDa. There is an 81.0% identity with the bovine equivalent on cDNA level and 74.5% identity on amino acid basis. PCR analysis of rodent-human somatic cell hybrids revealed that the human NDUFS5 gene maps to chromosome 1. The NDUFS5 mRNA is expressed ubiquitously in human tissues, with a relative higher expression in human heart, skeletal muscle, liver, kidney and fetal heart. A mutation detection study of twenty isolated enzymatic complex I-deficient patients revealed no mutations, nor polymorphisms. |
