ALG3 wt Allele

Preferred Label : ALG3 wt Allele;

NCIt synonyms : NOT; NOT56L; CDG1D; D16Ertd36e; Asparagine-Linked Glycosylation 3, Alpha-1,3- Mannosyltransferase Homolog (S. cerevisiae) Gene; Dol-P-Man Dependent Alpha-1,3- Mannosyltransferase Gene; CDGS4; Asparagine-Linked Glycosylation 3, Alpha-1,3- Mannosyltransferase Homolog Gene; CDGS6; Asparagine-Linked Glycosylation 3 Homolog (S. cerevisiae, Alpha-1,3-Mannosyltransferase) Gene; Not56; Asparagine-Linked Glycosylation 3 Homolog (Yeast, Alpha-1,3-Mannosyltransferase) Gene; Carbohydrate Deficient Glycoprotein Syndrome Type IV Gene; ALG3, S. cerevisiae, Homolog of Gene; ALG3 Alpha-1,3- Mannosyltransferase wt Allele;

NCIt definition : Human ALG3 wild-type allele is located in the vicinity of 3q27.1 and is approximately 7 kb in length. This allele, which encodes Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase protein, is involved in protein glycosylation. Mutation of the gene is associated with congenital disorder of glycosylation type 1d.;

NCI Metathesaurus CUI : CL1904925;

GenBank Accession Number : BC002839;

Details

Origin ID

C191651;

UMLS CUI

C5780801;

Automatic exact mappings (from CISMeF team)
- ALG13-CDG [ORDO Disease]
OMIM relation
- Alg3 alpha-1,3-mannosyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q27.1 [NCIt concept]
gene_is_element_in_pathway
- N-Glycan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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