Gene encoding a new TRP channel is mutated in mucolipidosis IV

Details Gene encoding a new TRP channel is mutated in mucolipidosis IV Gene encoding a new TRP channel is mutated in mucolipidosis IV

2006-05-09

2006-05-09

Ulm, John (Department: 1649)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S069100, C435S252300, C435S320100, C536S023500, C536S024310

Reexamination Certificate

active

07041448

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.

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