FKTN wt Allele

Preferred Label : FKTN wt Allele;

NCIt synonyms : MDDGB4; LGMD2M; MDDGA4; FCMD; Fukuyama Type Congenital Muscular Dystrophy (Fukutin) Gene; Fukutin wt Allele; CMD1X; LGMDR13; MDDGC4;

NCIt definition : Human FKTN wild-type allele is located in the vicinity of 9q31.2 and is approximately 96 kb in length. This allele, which encodes ribitol-5-phosphate transferase FKTN protein, plays a role in the maturation of O-linked glycans. Mutation of the gene is associated with Fukuyama-type congenital muscular dystrophy, Walker-Warburg syndrome, limb-girdle muscular dystrophy type 2M and dilated cardiomyopathy type 1X.;

NCI Metathesaurus CUI : CL1920501;

GenBank Accession Number : NM_006731;

Details

Origin ID

C201162;

UMLS CUI

C5849037;

OMIM relation
- Fukutin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Protein Glycosylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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