Pub. Date : 1999 Nov
PMID : 10545608
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | The nucleotide pair (np) 7472 insC mitochondrial DNA mutation in the tRNA(Ser)(UCN) gene is associated with sensorineural deafness, combined in some individuals with a wider syndrome including ataxia and myo-clonus. | Serine | urocortin | Homo sapiens |
| 2 | The mutation results in a 65% drop in the steady-state level of tRNA(Ser)(UCN), but causes at most only a very mild and quantitative abnormality of mitochondrial protein synthesis, associated with modest hypersensitivity to doxycyclin. | Serine | urocortin | Homo sapiens |
| 3 | Comparing the np 7472 and np 7445 mutant phenotypes in cultured cells suggests that sensorineural deafness can result from a functional insufficiency of mitochondrial tRNA(Ser)(UCN), to which some cells of the auditory system are especially vulnerable. | Serine | urocortin | Homo sapiens |