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ALG13 - ALG13 UDP-N-acetylglucosaminyltransferase subunit
- Synonym(s) : CDG1S, FLJ23018, MDS031, N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase, TDRD13, Tudor domain containing 13, tudor domain containing 13, YGL047W
- Previous symbols and names : Asparagine-linked glycosylation 13 homolog (S. cerevisiae), CXorf45, Chromosome X open reading frame 45, GLT28D1, Glycosyltransferase 28 domain containing 1, asparagine-linked glycosylation 13 homolog (S. cerevisiae), chromosome X open reading frame 45, glycosyltransferase 28 domain containing 1
- Type : gene with protein product
- Chromosomal location : Xq23
- OMIM: 300776
- HGNC: 30881
- UniProtKB: Q9NP73
- Genatlas: ALG13
- GenCC: ALG13
- Ensembl: ENSG00000101901
- IUPHAR-DB: -
- Reactome: Q9NP73
- LOVD: ALG13
Diseases list
- Disease-causing germline mutation(s) in ALG13-CDG
ORPHA:324422 
- Disease-causing germline mutation(s) in X-linked non-syndromic intellectual disability
ORPHA:777
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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