MPDU1 wt Allele

Preferred Label : MPDU1 wt Allele;

NCIt synonyms : LEC35; My008; Suppressor of Lec15 and Lec35 Glycosylation Mutation Homolog Gene; Mannose-P-Dolichol Utilization Defect 1 wt Allele; HBEBP2BPA; PQLC5; SL15; SLC66A5; CDGIF; Suppressor of Lec15 Gene; PP3958;

NCIt definition : Human MPDU1 wild-type allele is located in the vicinity of 17p13.1 and is approximately 9 kb in length. This allele, which encodes mannose-P-dolichol utilization defect 1 protein, plays a role in the synthesis of mannose-P-dolichol, which is required for the synthesis of dolichol-linked oligosaccharides, such as glycosylphosphatidylinositols. Mutation of the gene is associated with congenital disorder of glycosylation type 1f.;

NCI Metathesaurus CUI : CL1905258;

GenBank Accession Number : AF038961;

Détails

Origin ID

C191661;

UMLS CUI

C5780961;

OMIM relation
- Mannose-p-dolichol utilization defect 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.1 [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Post-Translational Modification [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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