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.;
GenBank Accession Number : NM_006731;
Origin ID : C201162;
OMIM relation
- gene_found_in_organism
- gene_plays_role_in_process
