Title : Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase.

Pub. Date : 1992 Jul 15

PMID : 1637339






1 Functional Relationships(s)
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Protein Name
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1 Additional increases in the concentration of monohexosyl- and dihexosyl-ceramide in the fetal kidney probably reflect the deficiency of SAP-2 in the case of monohexosylceramides, and the combined activator deficiency in the case of dihexosylceramides. monohexosyl- and dihexosyl-ceramide leucine rich repeat and coiled-coil centrosomal protein 1 Homo sapiens