POMT2 wt Allele

Preferred Label : POMT2 wt Allele;

NCIt synonyms : LGMD2N; Protein O-Mannosyltransferase 2 wt Allele; LGMDR14; MDDGC2; MDDGB2; MDDGA2;

NCIt definition : Human POMT2 wild-type allele is located in the vicinity of 14q24.3 and is approximately 46 kb in length. This allele, which encodes protein O-mannosyl-transferase 2 protein, is involved in the transfer of mannosyl residues to the hydroxyl group of serine or threonine residues. Mutations in the gene are associated with muscular dystrophy-dystroglycanopathy types A2 (congenital with brain and eye anomalies), B2 (congenital with impaired intellectual development) and C2 (limb-girdle).;

NCI Metathesaurus CUI : CL1926597;

GenBank Accession Number : AF105020;

Details

Origin ID

C204534;

UMLS CUI

C5890913;

OMIM relation
- Protein o-mannosyltransferase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q24.3 [NCIt concept]
gene_is_element_in_pathway
- O-Mannosyl Glycan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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