POMT1 wt Allele

Preferred Label : POMT1 wt Allele;

NCIt synonyms : Protein O-Mannosyltransferase 1 wt Allele; Rotated Abdomen, Drosophila, Homolog of Gene; LGMDR11; RT; MDDGC1; MDDGB1; MDDGA1; LGMD2K;

NCIt definition : Human POMT1 wild-type allele is located in the vicinity of 9q34.13 and is approximately 21 kb in length. This allele, which encodes protein O-mannosyl-transferase 1 protein, plays a role in O-mannosylation of proteins. Mutations in the gene are associated with muscular dystrophy-dystroglycanopathy types A1 (congenital with brain and eye anomalies), B1 (congenital with impaired intellectual development) and C1 (limb-girdle).;

NCI Metathesaurus CUI : CL1926598;

GenBank Accession Number : AF095136;

Details

Origin ID

C204531;

UMLS CUI

C5891025;

OMIM relation
- Protein o-mannosyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.13 [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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