Literature summary for 1.2.1.24 extracted from

Di Rosa, G.; Malaspina, P.; Blasi, P.; Dionisi-Vici, C.; Rizzo, C.; Tortorella, G.; Crutchfield, S.R.; Gibson, K.M.
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency (2009), J. Inherit. Metab. Dis., 32, S201-S205.

Protein Variants

Protein Variants	Comment	Organism
C223R	missense mutation associated with a dramatic reduction of enzyme activity	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms	Comment	Organism
SSADH	-	Homo sapiens
succinate semialdehyde dehydrogenase	-	Homo sapiens

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Release 2023.1 (January 2023)