Identity
HGNC
LOCATION
Xq23
LOCUSID
ALIAS
CDG1S,CXorf45,DEE36,EIEE36,GLT28D1,MDS031,TDRD13,YGL047W
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79868
MIM: 300776
HGNC: 30881
Ensembl: ENSG00000101901
Variants:
dbSNP: 79868
ClinVar: 79868
TCGA: ENSG00000101901
COSMIC: ALG13
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33410528 | 2021 | The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. | 7 |
| 33583022 | 2021 | Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. | 7 |
| 33734437 | 2021 | ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. | 8 |
| 33410528 | 2021 | The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. | 7 |
| 33583022 | 2021 | Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. | 7 |
| 33734437 | 2021 | ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. | 8 |
| 31444733 | 2019 | X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls. | 6 |
| 31444733 | 2019 | X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls. | 6 |
| 28178702 | 2017 | Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation. | 5 |
| 28778787 | 2017 | Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature. | 10 |
| 28178702 | 2017 | Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation. | 5 |
| 28778787 | 2017 | Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature. | 10 |
| 24501762 | 2014 | X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. | 12 |
| 24501762 | 2014 | X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. | 12 |
| 16100110 | 2005 | Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. | 48 |
Citation
Dessen P
ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60250/gene-fusions/gene-explorer/
