Spermine synthase
Domain
Composed of 3 domains: the N-terminal domain has structural similarity to S-adenosylmethionine decarboxylase, the central domain is made up of four beta strands and the C-terminal domain is similar in structure to spermidine synthase. The N- and C-terminal domains are both required for activity.
Function
Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type
MRXSSR
An X-linked intellectual disability syndrome characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amine and polyamine biosynthesis; spermine biosynthesis; spermine from spermidine: step 1/1.
Sequence Similarities
Belongs to the spermidine/spermine synthase family.
Alternative names
Spermine synthase, SPMSY, Spermidine aminopropyltransferase, SMS