SMS spermine synthase
Gene ID: 6611, updated on 28-Oct-2024Gene type: protein coding
Also known as: SRS; SpS; MRSR; SPMSY; MRXSSR
- See all available tests in GTR for this gene
- Go to complete Gene record for SMS
- Go to Variation Viewer for SMS variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Syndromic X-linked intellectual disability Snyder type | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-08-23) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-08-23) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xp22.11
- Sequence:
- Chromosome: X; NC_000023.11 (21940709..21994837)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SMS @ LOVD
- Variation ViewerRelated Variants
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