| abstract |
The invention pertains to a protein which comprises the same or substantially the same amino acid sequence as that represented by Fig. 3, or a variant of the amino acid sequence having a deletion, addition or substitution of amino acids, an isolated cDNA comprising DNA having a nucleotide sequence encoding this protein, or a DNA hybridizing with this DNA, or a DNA which is synonymous to the said DNAs, a recombinant vector comprising the DNA. The invention furthermore pertains to methods of screening for and detection of pNEU60 mutation carriers with macular degeneration, prenatal pNEU60 screening and diagnosis, gene therapy utilizing recombinant DNA as well as the generation of transgenic animals (knock-in, knock-out, transgenic animals), anti-pNEU60 antibodies and use in screening for modulating drugs. |