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Gene: SMS (spermine synthase) Homo sapiens
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Symbol: SMS
Name: spermine synthase
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MRSR; Snyder-Robinson X-linked mental retardation syndrome; spermidine aminopropyltransferase; SPMSY; SpS; SRS
Orthologs:
Mus musculus (house mouse) : Sms (spermine synthase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Sms (spermine synthase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Sms (spermine synthase)
Pan paniscus (bonobo/pygmy chimpanzee) : SMS (spermine synthase)
Canis lupus familiaris (dog) : SMS (spermine synthase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Sms (spermine synthase)
Sus scrofa (pig) : SMS (spermine synthase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X21,940,573 - 21,994,837 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X21,958,691 - 22,025,798 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,868,763 - 21,922,876 (+)NCBINCBI36hg18NCBI36
Build 34X21,718,498 - 21,772,611NCBI
CeleraX26,079,796 - 26,133,909 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX19,699,279 - 19,753,795 (+)NCBIHuRef
CHM1_1X21,989,118 - 22,043,385 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SMS
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1345734
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.