ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit

Gene ID: 79868, updated on 3-Apr-2024
Gene type: protein coding
Also known as: CDG1S; DEE36; EIEE36; MDS031; TDRD13; CXorf45; GLT28D1; YGL047W

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital disorder of glycosylation MedGen: C0282577GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	See labs
Developmental and epileptic encephalopathy, 36 MedGen: C4317295OMIM: 300884GeneReviews: Not available	See labs

Genomic context

Location:: Xq23

Sequence:: Chromosome: X; NC_000023.11 (111681170..111760649)

Total number of exons:: 35

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ALG13 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ALG13 @ LOVD
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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