Literature summary for 2.5.1.22 extracted from

de Alencastro, G.; McCloskey, D.E.; Kliemann, S.E.; Maranduba, C.M.; Pegg, A.E.; Wang, X.; Bertola, D.R.; Schwartz, C.E.; Passos-Bueno, M.R.; Sertie, A.L.
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome (2008), J. Med. Genet., 45, 539-543.

Search for more literature for 2.5.1.22

Application

Application	Comment	Organism
medicine	mutation p.G56S in the N-terminal region of spermine synthase greatly reduces spermine synthase activity and leads to severe epilepsy and cognitive impairment related to Snyder-Robinson X-linked recessive mental retardation syndrome	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	mutation p.G56S in the N-terminal region of spermine synthase greatly reduces spermine synthase activity and leads to severe epilepsy and cognitive impairment related to Snyder-Robinson X-linked recessive mental retardation syndrome	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with Snyder-Robinson X-linked recessive mental retardation syndrome	-

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Release 2023.1 (January 2023)