Article
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.
The Journal of biological chemistry - 15 Feb 1992
Schnabel D, Schröder M, Fürst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton B C, Poulos A
Abstract excerpt
Sphingolipid activator proteins (SAPs) are small, nonenzymic glycoproteins that stimulate lysosomal degradation of various sphingolipids. SAP-1, SAP-2, and two additional potential activator proteins are derived from a common precursor by proteolytic processing. A severe case of sphingolipid stor...
Topics
- Alleles
- Base Sequence
- Cells, Cultured
- Codon
- Fibroblasts
- Glycoproteins
- Humans
- Lipid Metabolism, Inborn Errors
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- RNA
- Saposins