Fukutin

Fukutin, also ( Fukuyama -type congenital muscular dystrophy protein ) is a protein in eukaryotes. The protein is present in the membrane of the Golgi apparatus of many cells. In large numbers Fukutin in the brain, pancreas, heart and skeletal muscle is formed. Encoded protein from the same Fukutin gene ( FKTN ), which is localized on the long arm of chromosome 9 ( 9q31.2 ). Mutations in this gene are responsible for a number of hereditary diseases.

Design and function

Fukutin has a single transmembrane domain, and thus one of the single-pass transmembrane proteins. The function of the protein is uncertain. Based on sequence homologies with a glycosyltransferase occurring in bacteria, it could be a such an enzyme. It is believed that Fukutin is involved in the glycosylation of the alpha - Dystroglyan ( DAG1 ). There is evidence that Fuktin with another enzyme, the protein O -linked mannose interacts beta -1 ,2- N- acetylglucosaminyltransferase 1 ( POMGNT1 ) and modulates its enzymatic activity. Fukutin could also play a role in brain development.

Medical importance

Four phenotypes are associated with mutations in the gene FKTN: The two congenital muscular dystrophies MDDGA4 (congenital muscular dystrophy Fukuyama, FCMD ) and MDDGB4 (congenital muscular dystrophy, Fukutin - associated), a form of limb- that LGMD2M ( MDDGC4 ), and a form of dilated cardiomyopathy, the CMD1X.

Further Reading

  • T. Yamamoto, N. Shibata include: Functions of Fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs. In: Central nervous system agents in medicinal chemistry Volume 10, Number 2, June 2010, pp. 169-179, ISSN 1875-6166. PMID 20,518,731th (Review).
336287
de