OGT Chromosome X
O-linked N-acetylglucosamine (GlcNAc) transferase
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What This Gene Does
This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"O-linked N-acetylglucosaminyltransferases|Tetratricopeptide repeat domain containing|NSL histone acetyltransferase complex"
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000147162
Associated Conditions (3)
Intellectual disability
X-linked 106
Inborn genetic diseases
Key Variants
RS1007777038
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 106, Intellectual disability
Health Risk
RS1556046834
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked 106
Health Risk
RS1204659204
Likely pathogenic
Health Risk
RS1602155923
Likely pathogenic
Intellectual disability, X-linked 106, Intellectual disability
Health Risk
RS2040366519
Likely pathogenic
Health Risk
RS2147675220
Likely pathogenic
Health Risk
RS2147686196
Likely pathogenic
Health Risk
RS2522845145
Likely pathogenic
Health Risk
RS2522845856
Likely pathogenic
Intellectual disability, X-linked 106, Intellectual disability
Health Risk
RS2522869732
Likely pathogenic
Intellectual disability, X-linked 106, Intellectual disability
Health Risk
RS1114167891
Pathogenic
Intellectual disability, X-linked 106, Intellectual disability
Health Risk
RS1131692155
Pathogenic
Intellectual disability, X-linked 106, Intellectual disability
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1007777038 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 106, Intellectual disability |
| RS1556046834 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 106 |
| RS1204659204 | Health Risk | Likely pathogenic | — |
| RS1602155923 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 106, Intellectual disability |
| RS2040366519 | Health Risk | Likely pathogenic | — |
| RS2147675220 | Health Risk | Likely pathogenic | — |
| RS2147686196 | Health Risk | Likely pathogenic | — |
| RS2522845145 | Health Risk | Likely pathogenic | — |
| RS2522845856 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 106, Intellectual disability |
| RS2522869732 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 106, Intellectual disability |
| RS1114167891 | Health Risk | Pathogenic | Intellectual disability, X-linked 106, Intellectual disability |
| RS1131692155 | Health Risk | Pathogenic | Intellectual disability, X-linked 106, Intellectual disability |
| RS1602147880 | Health Risk | Pathogenic | Intellectual disability, X-linked 106, Intellectual disability |
| RS1602152230 | Health Risk | Pathogenic | Intellectual disability, X-linked 106, Intellectual disability |
| RS943295842 | Health Risk | Pathogenic | Intellectual disability, X-linked 106, Intellectual disability |