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. 4 (SEQ ID NO: 2).
2. An ELF protein of claim 1 that is encoded by the cDNA sequence set forth in FIG. 4 (SEQ ID NO:4).
3. A vector comprising an ELF expression cassette, wherein said expression cassette comprises cDNA sequence of SEQ ID NO: 4 encoding an ELF protein.
4. The vector of claim 3 further comprising operatively linked regulatory regions.
5. A host cell comprising a vector of claim 4 .
6. A method of making an ELF protein comprising culturing a host cell of claim 5 and recovering said ELF protein.