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Q37325058-5FC9095C-A62F-46C6-BA73-FE5860BEB8C3
Q37325058-5FC9095C-A62F-46C6-BA73-FE5860BEB8C3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37325058-5FC9095C-A62F-46C6-BA73-FE5860BEB8C3
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
P2860
Q37325058-5FC9095C-A62F-46C6-BA73-FE5860BEB8C3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37325058-5FC9095C-A62F-46C6-BA73-FE5860BEB8C3
rank
NormalRank
type
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Statement
wasDerivedFrom
a0f9812b48affa0fbe804f1dd5d024f94195e408
P2860
Identification and expression of a cDNA encoding human alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase (ACMSD). A key enzyme for the tryptophan-niacine pathway and "quinolinate hypothesis"