Article
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
The Journal of biological chemistry - 25 Apr 1991
Holtschmidt H, Sandhoff K, Kwon H Y, Harzer K, Nakano T, Suzuki K
Abstract excerpt
The sulfatide activator protein, also known as SAP-1, is derived from a gene that generates an mRNA coding for four homologous proteins. Its physiological function is to stimulate hydrolysis of sulfatide by arylsulfatase A in vivo. A genetic defect in the sulfatide activator results in a metabolic disorder similar to classical metachromatic leukodystrophy, which is itself caused by a genetic defect in...
Topics
- Base Sequence
- Blotting, Northern
- Child
- DNA
- Glycoproteins
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction