ALG13 Chromosome X
ALG13 UDP-N-acetylglucosaminyltransferase subunit
Upload your DNA to see your personal genotypes for variants in ALG13.
What This Gene Does
The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"UDP-N-acetylglucosaminyltransferase subunits|OTU domain containing|Tudor domain containing"
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000101901
Associated Conditions (14)
Developmental and epileptic encephalopathy
36
Inborn genetic diseases
ALG13-related disorder
Intellectual disability
Familial cancer of breast
1
Hereditary ataxia
Microcephaly
Congenital disorder of glycosylation
Seizure
Rare genetic intellectual disability
Hypotonia
Neurodevelopmental delay
Key Variants
RS1057522541
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Inborn genetic diseases
Health Risk
RS1164687660
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy
Health Risk
RS1189252877
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy
Health Risk
RS1194966893
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, ALG13-related disorder
Health Risk
RS1208820400
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Inborn genetic diseases
Health Risk
RS1272022379
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Intellectual disability
Health Risk
RS138712375
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Inborn genetic diseases
Health Risk
RS145518377
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Inborn genetic diseases
Health Risk
RS1465704791
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Inborn genetic diseases
Health Risk
RS1556483387
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy
Health Risk
RS1556516921
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy
Health Risk
RS1569520797
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057522541 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS1164687660 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS1189252877 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS1194966893 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, ALG13-related disorder |
| RS1208820400 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS1272022379 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Intellectual disability |
| RS138712375 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS145518377 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS1465704791 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS1556483387 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS1556516921 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS1569520797 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS190790872 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS1934561313 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS1939938682 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS1942117760 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS1942214434 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS199505558 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS367783946 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS368075878 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS371428241 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Familial cancer of breast |
| RS372209528 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS372521943 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS373025706 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS374174400 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS374870130 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS375062698 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS56717389 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS746842727 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS747478031 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS750005344 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS750710267 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS751478782 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS753556936 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 1, 36 |
| RS756238772 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 36 |
| RS758242204 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS760283589 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS761412613 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 36 |
| RS766512298 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS771610606 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Inborn genetic diseases |
| RS772765360 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS773392173 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS773401427 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS773666398 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS774331771 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS775045681 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS778296473 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Hereditary ataxia |
| RS778396216 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |
| RS780760081 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781178409 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 36, Developmental and epileptic encephalopathy |