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Q46145781-3A30B4C1-BAC6-4D18-9D7D-F539F7460B9C
Q46145781-3A30B4C1-BAC6-4D18-9D7D-F539F7460B9C
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Statement
http://www.wikidata.org/entity/statement/Q46145781-3A30B4C1-BAC6-4D18-9D7D-F539F7460B9C
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
P2860
Q46145781-3A30B4C1-BAC6-4D18-9D7D-F539F7460B9C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46145781-3A30B4C1-BAC6-4D18-9D7D-F539F7460B9C
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Statement
wasDerivedFrom
ff2e33fbe6eb4d837ed858d1d75731ca43ff6c99
P2860
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH