 |
SMS |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SMS (HGNC:11123) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- spermine synthase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- SRS
- Alias symbols
- SPMSY, SpS, MRSR
- %HI
- 12.45(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.97(Read more about gnomAD pLI score)
- LOEUF
- 0.31(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.11
- Genomic Coordinates
-
GRCh37/hg19: chrX:21958827-22012955 NCBI Ensembl UCSC GRCh38/hg38: chrX:21940709-21994837 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004595.5 ENST00000404933.7 (Read more about MANE Select)
- Function
- Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM). {ECO:0000269|PubMed:18367445, ECO:0000269|PubMed:18550699, ECO:0000269|PubMed:23696453, ECO:0000269|PubMed:23897707}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- syndromic X-linked intellectual disability Snyder type Monarch
-
PUBMED:
14508504
Cason et al. (2003) analyzed SMS in 9 families with XLID. They found a splice site mutation (329+5 G>A) in SMS in a family with Snyder-Robinson syndrome that segregated with the affected males. This change was not detected in 480 normal males. The enzyme activity of SMS was analyzed in the affected individuals and found to be ~5% of normal controls.
-
PUBMED:
18550699
de Alencastro et al. (2008) found a missense mutation (G56S) in SMS that segregated with disease in a family with a severe form of Synder-Robinson syndrome. The mutation was not detected in 448 normal males and 138 normal females. Supporting evidence that this missense mutation is pathogenic: 1) the G56 residue is highly conserved and 2) SMS enzyme activity could not be detected in 3 of the affected patients.
-
PUBMED:
19206178
Becerra-Solano et al. (2009) found a missense mutation (V132G) in SMS in 2 affected brothers with Synder-Robinson syndrome, but not in their 2 normal brothers. The mutation was not detected in 549 normal X chromosomes. Supporting evidence that this missense mutation is pathogenic: 1) the V132 residue is highly conserved and 2) SMS enzyme activity was significantly reduced in the affected individuals.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
