ALG13 wt Allele

Preferred Label : ALG13 wt Allele;

NCIt synonyms : MDS031; FLJ23018; Hematopoietic Stem/Progenitor Cells Protein MDS031 Gene; Asparagine-Linked Glycosylation 13 Homolog (S. cerevisiae) Gene; YGL047W; Asparagine-Linked Glycosylation 13 Homolog Gene; GLT28D1; TDRD13; DEE36; Chromosome X Open Reading Frame 45 Gene; CDG1S; N-Acetylglucosaminyldiphosphodolichol N-Acetylglucosaminyltransferase Gene; CXorf45; ALG13, S. cerevisiae, Homolog of Gene; Glycosyltransferase 28 Domain Containing 1 Gene; ALG13 UDP-N-Acetylglucosaminyltransferase Subunit wt Allele; Tudor Domain Containing 13 Gene; EIEE36; Glycosyltransferase 28 Domain-Containing 1 Gene; Asparagine-Linked Glycosylation 13, S. cerevisiae, Homolog of Gene;

NCIt definition : Human ALG13 wild-type allele is located in the vicinity of Xq23 and is approximately 95 kb in length. This allele, which encodes putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 protein, is involved in post-translational protein modification. Mutation of the gene is associated with developmental and epileptic encephalopathy 36.;

NCI Metathesaurus CUI : CL1905100;

GenBank Accession Number : AF220051;

Details

Origin ID

C191414;

UMLS CUI

C5780759;

Automatic exact mappings (from CISMeF team)
- ALG13-CDG [ORDO Disease]
OMIM relation
- Alg13 udp-n-acetylglucosaminyltransferase subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- N-Glycan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Deubiquitination [NCIt concept]
- Glycosylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Glycosylation [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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