Literature summary for 3.4.23.5 extracted from

Fritchie, K.; Siintola, E.; Armao, D.; Lehesjoki, A.E.; Marino, T.; Powell, C.; Tennison, M.; Booker, J.M.; Koch, S.; Partanen, S.; Suzuki, K.; Tyynelae, J.; Thorne, L.B.
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10) (2009), Acta Neuropathol., 117, 201-208.

Protein Variants

Protein Variants	Comment	Organism
S100F	mutant, activity affected, causative of congenital neuronal ceroid lipofuscinose	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms	Comment	Organism
cathepsin D	-	Homo sapiens

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Release 2023.1 (January 2023)