FKTN: Proteins and Enzymes

FKTN genes encode fukutin proteins that in isoform 1 are 461 amino acids long at 54 kDA and at isoform 2 are 430 amino acids long at 49 kDA. These proteins are thought to participate in glycosylation of alpha-dystroglycan/DAG1 as it is probably a glycosyltransferase. Additionally, it may reinforce large a complex surrounding the outside and inside of muscle membranes, further enhancing brain development. FKTN is involved with the CNBP gene. Defects in this gene cause myscular dystrophy-dystroglycanopathy congenital types A4, B4, C4, and cadiomyopathy dilated type 1X. FKTN is also linked to optic atrophy, cleft lip, walker-warburg syndrome, dubowitz syndrome, retinal detachment, and neuronal migration disorders.