Article
Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse.
Human molecular genetics - 1 Nov 2004
Matsuda Junko, Kido Makiko, Tadano-Aritomi Keiko, Ishizuka Ineo, Tominaga Kumiko, Toida Kazunori, Takeda Eiji, Suzuki Kunihiko, Kuroda Yasuhiro
Abstract excerpt
The sphingolipid activator proteins (saposins A, B, C and D) are small homologous glycoproteins that are encoded by a single gene in tandem within a large precursor protein (prosaposin) and are required for in vivo degradation of some sphingolipids with relatively short carbohydrate chains. Human...
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