Wolframin, a transmembrane protein and related DNA useful for diagnosis and therapy of Wolfram Syndrome, especially where there is a tendency to psychiatric disease

摘要

A transmembrane protein (Wolframin) comprises a 1049 residue amino acid sequence, or a protein where one or more amino acids vary in the amino acid sequence and which is suitable as a transmembrane protein and its DNA sequence hybridizes with the 3628 bp DNA sequence, both fully defined in the specification. Independent claims are also included for the following: (1) a DNA encoding Wolframin of the novelty; (2) a DNA suitable for detection of Wolframin sequences comprising an intron-exon sequence of 14 sequences, fully defined in the specification or a primer sequence of 26 sequences, fully defined in the specification; (3) an expression plasmid comprising the DNA of (1); (4) a transformant containing the expression plasmid of (3); (5) a method of producing Wolframin comprising cultivating the transformant of (4) under suitable conditions; and (6) an antibody directed against Wolframin.