POMGNT1 wt Allele

Preferred Label : POMGNT1 wt Allele;

NCIt synonyms : gnT-I.2; LGMD2O; Protein O-Mannose Beta-1,2-N-Acetylglucosaminyltransferase Gene; FLJ20277; Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Gene; GnT I.2; Muscle-Eye-Brain Disease Gene; RP76; GNTI.2; LGMDR15; Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-) wt Allele; MGAT1.2; MEB;

NCIt definition : Human POMGNT1 wild-type allele is located in the vicinity of 1p34.1 and is approximately 32 kb in length. This allele, which encodes protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 protein, is involved in the extension of glycan moieties of glycoproteins. Mutations in the gene are associated with retinitis pigmentosa 76 and muscular dystrophy-dystroglycanopathy types A3 (congenital with brain and eye anomalies), B3 (congenital with impaired intellectual development) and C3 (limb-girdle).;

NCI Metathesaurus CUI : CL1926600;

GenBank Accession Number : NM_017739;

Details

Origin ID

C204528;

UMLS CUI

C5891007;

OMIM relation
- Protein o-mannose beta-1,2-n-acetylglucosaminyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p34.1 [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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