Aliases for SMS Gene
External Ids for SMS Gene
Previous HGNC Symbols for SMS Gene
Previous GeneCards Identifiers for SMS Gene
This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
GeneCards Summary for SMS Gene
SMS (Spermine Synthase) is a Protein Coding gene. Diseases associated with SMS include Mental Retardation, X-Linked, Snyder-Robinson Type and Intellectual Disability. Among its related pathways are Metabolism and beta-Alanine metabolism (KEGG). GO annotations related to this gene include spermidine synthase activity and spermine synthase activity.
UniProtKB/Swiss-Prot for SMS Gene
Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).