STT3A Chromosome 11
STT3 oligosaccharyltransferase complex catalytic subunit A
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What This Gene Does
The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"STT3 oligosaccharyltransferase catalytic subunits|Oligosaccharyltransferase complex subunits"
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000134910
Associated Conditions (4)
Congenital disorder of glycosylation
type Iw
autosomal dominant
STT3A-congenital disorder of glycosylation
Key Variants
RS2135904246
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type Iw, autosomal dominant
Health Risk
RS2135921186
Likely pathogenic
Congenital disorder of glycosylation, type Iw, autosomal dominant
Health Risk
RS2135938300
Likely pathogenic
Congenital disorder of glycosylation, type Iw, autosomal dominant
Health Risk
RS587777216
Likely pathogenic
STT3A-congenital disorder of glycosylation, STT3A-congenital disorder of glycosylation
Health Risk
RS759953502
Likely pathogenic
Congenital disorder of glycosylation, type Iw, autosomal dominant
Health Risk
RS780062429
Pathogenic/Likely pathogenic
Congenital disorder of glycosylation, type Iw, autosomal dominant
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135904246 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type Iw, autosomal dominant |
| RS2135921186 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type Iw, autosomal dominant |
| RS2135938300 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type Iw, autosomal dominant |
| RS587777216 | Health Risk | Likely pathogenic | STT3A-congenital disorder of glycosylation, STT3A-congenital disorder of glycosylation |
| RS759953502 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type Iw, autosomal dominant |
| RS780062429 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of glycosylation, type Iw, autosomal dominant |