Fukutin

from Wikipedia, the free encyclopedia
Fukutin
Mass / length primary structure 461 AA, 53.7 kDa
Identifier
Gene name (s) FKTN; FCMD genes; FCMD
External IDs

Fukutin , also Fukuyama-type congenital muscular dystrophy protein , is a protein found in eukaryotes . The protein is found in the membrane of the Golgi apparatus of numerous cells. Fukutin is produced in large numbers in the brain, in the pancreas, in the heart and in the skeletal muscle. Encoding the protein of the same name is Fukutin- gene (FKTN) , which on the long arm of chromosome 9 is located (9q31.2). Mutations in this gene are responsible for several inherited diseases.

Layout and function

Fukutin has a single transmembrane domain and thus belongs to the single-pass transmembrane proteins . The function of the protein is uncertain. Because of sequence homologies with a glycosyltransferase found in bacteria , it could be such an enzyme . Fukutin is thought to be involved in the glycosylation of alpha-dystroglycan (DAG1). There is evidence that fukutin interacts with another enzyme, the protein O-mannose 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 with mutations associated in FKTN gene: The two congenital muscular dystrophies MDDGA4 (congenital muscular dystrophy type Fukuyama, FCMD) and MDDGB4 (congenital muscular dystrophy, Fukutin-associated), a form of limb- , the LGMD2M (MDDGC4), and a form of dilated cardiomyopathy , the CMD1X . The congenital muscular dystrophies can express themselves as congenital muscular dystrophy type Fukuyama , Walker-Warburg syndrome , or as a muscle-eye-brain disease .

further reading

  • T. Yamamoto, N. Shibata et al .: 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. PMID 20518731 . (Review).

Individual evidence

  1. ↑ a b c d UniProt O75072
  2. ^ A b Susan E. Sparks, Diana M. Escolar: Congenital muscular dystrophies . In: Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 64.
  3. ↑ Fukutin.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ MDDGA4.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ MDDGB4.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ MDDGC4.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ CMD1X.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ Fukutin.  In: Online Mendelian Inheritance in Man . (English)