Article
Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.
Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1990
Kretz K A, Carson G S, Morimoto S, Kishimoto Y, Fluharty A L, O'Brien J S
Abstract excerpt
Saposins are small, heat-stable glycoproteins required for the hydrolysis of sphingolipids by specific lysosomal hydrolases. Saposins A, B, C, and D are derived by proteolytic processing from a single precursor protein named prosaposin. Saposin B, previously known as SAP-1 and sulfatide activator...
Topics
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- DNA
- Glycoproteins
- Glycosylation
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Protein Processing, Post-Translational
- Reference Values
- Saposins
- Sphingolipid Activator Proteins