Gene encoding a new TRP channel is mutated in mucolipidosis IV
US7041448B2 · kind B2 · utility
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46Claims
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Key dates
| Filing date | May 8, 2001 |
| Grant date | May 9, 2006 |
| Priority date | — |
| Expiry date | May 8, 2021 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/172
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
The present invention relates to identification of a gene that is inactivated in a mucolipidosis condition. In particular, the invention concerns mutations that disrupt a mucolipin, preferably MCOLN1, in mucolipidosis IV. Recombinant nucleic acids encoding mutant forms of MCOLN1, oligonucleotides specific for such mutations, and diagnostic and therapeutic applications related to these discoveries, are also contemplated.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.