Fukuyama type congenital muscular dystrophy cause protein

摘要

PROBLEM TO BE SOLVED: To obtain the subject new protein comprising a Fukuyama type congenital muscular dystrophy(FCMD) containing a specific amino acid sequence, useful for elucidating the crisis and condition of FCMD, diagnosing, preventing and treating FCMD, etc., with its gene. ;SOLUTION: This new protein comprises a Fukuyama type congenital muscular dystrophy(FCMD) causing protein containing an amino acid sequence of the formula or a protein containing an amino acid sequence in which one or plural amino acids are deleted, substituted or added in the amino acid sequence of the formula and having the same biological function as that of FCMD causing protein. The crisis of FCMD is caused by the function insufficiency of the protein. Useful information for elucidation of the crisis and condition of FCMD, its diagnosis, prevention and treatment, etc., can be provided by the gene of the protein. The protein is readily obtained by screening a human adult brain cDNA library and using the obtained FCMD causing protein gene by an ordinary genetic engineering method.;COPYRIGHT: (C)1999,JPO