Summary

Name FKTN
Full Name Fukutin
Synonyms Fukuyama-type congenital muscular dystrophy protein | FCMD
Primary ID O75072
Links - -
Type protein
Relations 1
Function Catalyzes the transfer of CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).

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Relations

Regulator Mechanism target score ℹ
+ FKTNform complex img/form-complex.png binding Fukutin-FKRP-TMEM5 multienzyme complex 0.659
Publications: 1 Organism: Homo Sapiens