Gene responsible for stargardt-like dominant macular dystrophy
The gene responsible for Stargardt-like macular dystrophy has been identified, along with its normal allelic form. The mutant gene encodes a mutant protein containing a frameshift mutation, resulting in abnormal fatty acid synthesis and transport in the retina. Also disclosed are assays for Stargardt-like macular dystrophy and therapies.
1. An isolated Elongation of Fatty Acids (ELF) protein, free from associated proteins, comprising the amino acid sequence set forth in FIG. 3 (SEQ ID NO: 1).
2. An ELF protein of claim 1 that is encoded by the cDNA sequence set forth in FIG. 3 (SEQ ID NO: 3).
3. A composition comprising the protein of claim 1 and a pharmaceutically acceptable carrier.
4. A composition according to claim 3 wherein the composition is an ophthalmic composition.
5. A vector comprising an ELF expression cassette, wherein said expression cassette comprises cDNA sequence of SEQ ID NO: 3 encoding an ELF protein.
6. The vector of claim 5 further comprising operatively linked regulatory regions.
7. An isolated host cell comprising a vector of claim 6 .
8. A method of making an ELF protein comprising culturing a host cell of claim 7 and recovering said ELF protein.