Fukutin-related protein

Fukutin - associated protein, Eng. Fukutin -related protein, FKRP short, is a protein in eukaryotes. Encoded protein from the FKRP gene, which is located on the long arm of chromosome 19 ( 19q13.32 ). Mutations in this gene are responsible for a number of genetic diseases.

Occurrence

FKRP is strongly formed in skeletal muscle, placenta and in the heart muscle and weakly in brain, lung, liver, kidney and pancreas ( expressed).

Function

The function of FKRP is not clear safely. Due to homology in the amino acid sequence starting from a glycosyltransferase function. FKRP has like some other glycosyltransferases a DXD motif so-called. It is believed that FKRP is involved in the glycosylation of α - dystroglycan. This is also suggested that α - dystroglycan is less heavily glycosylated with muscle diseases that are caused by FKRP mutations. However FKRP also has sequence homologies with phosphoryl ligand transferases.

In which cellular compartment FKRP occurs or its functions is also running still unclear. FKRP was detected both in the Golgi apparatus, endoplasmic reticulum and the cell membrane.

Medical importance

Mutations in the FKRP gene lead to different ( allelic ) muscle diseases that are inherited in an autosomal recessive manner. The clinical spectrum is highly variable. The following diseases or phenotypes, all of which are counted among the so-called Dystroglykanopathien can be distinguished:

  • The congenital muscular dystrophies Walker - Warburg syndrome, muscle - eye-brain disease and congenital muscular dystrophy 1C ( MDC1C, Congenital Muscular Dystrophy Dystroglykanopathie type B5, MDDGB5 )
  • A form of limb- that LGMD2I (including limb-girdle muscular dystrophy type Dystroglykanopathie C5, short MDDGC5 ).

The effects caused by FKRP gene mutations phenotypes of the Walker-Warburg syndrome and muscle - eye-brain disease are summarized in the online catalog of Online Mendelian Inheritance in Man since 2011 as Congenital Muscular Dystrophy Dystroglykanopathie with malformations of the brain and eyes type 5 short MDDGA5.

Recessive trait Walker–Warburg syndrome Digital Object Identifier
336234
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