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Literature summary extracted from

  • Peng, Y.; Norris, J.; Schwartz, C.; Alexov, E.
    Revealing the effects of missense mutations causing Snyder-Robinson syndrome on the stability and dimerization of spermine synthase (2016), Int. J. Mol. Sci., 17, 77.
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
2.5.1.22 F58L the mutation is associated with the Snyder-Robinson syndrome Homo sapiens
2.5.1.22 G56S the mutation is associated with the Snyder-Robinson syndrome Homo sapiens
2.5.1.22 G67E the mutation is associated with the Snyder-Robinson syndrome Homo sapiens
2.5.1.22 M35R the mutation is associated with the Snyder-Robinson syndrome Homo sapiens
2.5.1.22 P112L the mutation is associated with the Snyder-Robinson syndrome Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.5.1.22 S-adenosyl 3-(methylthio)propylamine + spermidine Homo sapiens
-
 S-methyl-5'-thioadenosine + spermine
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.5.1.22 Homo sapiens P52788
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.5.1.22 lymphoblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.5.1.22 S-adenosyl 3-(methylthio)propylamine + spermidine
-
 Homo sapiens S-methyl-5'-thioadenosine + spermine
-
 ?

Subunits

EC Number Subunits Comment Organism
2.5.1.22 homodimer
-
 Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
2.5.1.22 SpmSyn
-
 Homo sapiens