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, Syndromic, Snyder-Robinson Type and Syndromic X-Linked Intellectual Disability Snyder Type. Among its related pathways are Urea cycle and metabolism of amino groups and Arginine and proline metabolism. Gene Ontology (GO) annotations related to this gene include spermidine synthase activity and spermine synthase activity. An important paralog of this gene is SRM.
UniProtKB/Swiss-Prot Summary for SMS Gene
Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).