STT3A
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
STT3A (HGNC:6172) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
STT3 oligosaccharyltransferase complex catalytic subunit A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ITM1
Alias symbols
TMC, MGC9042, STT3-A
%HI
5.47(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.9(Read more about gnomAD pLI score)
LOEUF
0.51(Read more about gnomAD LOEUF score)
Cytoband
11q24.2
Genomic Coordinates
GRCh37/hg19: chr11:125462747-125492986 NCBI Ensembl UCSC
GRCh38/hg38: chr11:125591769-125623091 NCBI Ensembl UCSC
MANE Select Transcript
NM_152713.5 ENST00000392708.9 (Read more about MANE Select)
Function
Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667, PubMed:34653363). N- glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming tran... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-37041
ClinGen Curation ID:
CCID:007951
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/29/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • STT3A-congenital disorder of glycosylation Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)