Opsins with mutations at the site of chromophore attachment constitutively activate transducin but are not phosphorylated by rhodopsin kinase.
More than 70 mutations in the gene encoding the visual pigment rhodopsin have been identified in patients with autosomal dominant retinitis pigmentosa. Most of these mutations are thought to interfere with proper folding of the membrane protein. However, families with a severe phenotype of retinitis...
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| Publicado no: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
1994
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC44005/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8202499/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.12.5411 |
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