Synonyms:ENTREZ:6611, HGNC:11123, MIM:300105, MRSR, NM_001258423, NM_004595, NP_001245352, NP_004586, SMS, SPMSY, SRS, SpS, XM_005274582, XM_011545568, XM_017029753, XM_017029754, XM_017029755, XM_024452427, XP_005274639, XP_011543870, XP_016885242, XP_016885243, XP_016885244, XP_024308195, spermine synthase
Omim:OMIM:300105
Id:ENSG00000102172
Hgnc:HGNC:11123
Description:spermine synthase
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]