Fukutin-associated protein
| Fukutin-related protein | ||
|---|---|---|
| Mass / length primary structure | 495 aa | |
| Identifier | ||
| Gene name (s) | FKRP | |
| External IDs | ||
Fukutin-related protein , Engl. Fukutin-related protein , or FKRP for short , is a protein found in eukaryotes . Encoding the protein is from FKRP- gene , which on the long arm of chromosome 19 is located (19q13.32). Mutations in this gene are responsible for several hereditary diseases.
Occurrence
FKRP is strongly formed ( expressed ) in skeletal muscle, placenta and heart muscle, and weakly in the brain, lungs, liver, kidneys and pancreas .
function
The function of FKRP has not been clarified with certainty. Due to homologies in the amino acid sequence, a glycosyl transferase function is assumed. Like some other glycosyltransferases, FKRP has a so-called DXD motif. It is believed that FKRP is involved in the glycosylation of α-dystroglycan . This is also supported by the fact that in muscle diseases that are triggered by FKRP mutations, α-dystroglycan is less glycosylated. However, FKRP also has sequence homologies with phosphoryl ligand transferases .
In which cell compartment FKRP occurs or performs its functions is also still unclear. FKRP was detected in the Golgi apparatus , in the endoplasmic reticulum and in the cell membrane .
Medical importance
Mutations in FKRP gene lead to different ( allelic ) muscle diseases autosomal - recessive inherited. The clinical spectrum is very variable. The following diseases or phenotypes , which all belong to the so-called dystroglycanopathies , can be distinguished:
- the congenital muscular dystrophies Walker-Warburg syndrome , muscle-eye-brain disease and congenital muscular dystrophy 1C (MDC1C, congenital muscular dystrophy dystroglycanopathy type B5, MDDGB5)
- a form of the limb girdle dystrophy , the LGMD2I (also limb girdle muscular dystrophy dystroglycanopathy type C5, MDDGC5 for short).
The phenotypes of Walker-Warburg syndrome and muscle-eye-brain disease caused by FKRP gene mutations are summarized in the online catalog of Online Mendelian Inheritance in Man since 2011 as congenital muscular dystrophy dystroglycanopathy with malformations of the brain and eyes type 5 , MDDGA5 for short .
Individual evidence
- ↑ a b FKRP. In: Online Mendelian Inheritance in Man . (English), last accessed on September 12, 2011
- ↑ UniProt Q9H9S5 , last accessed on September 12, 2011
- ↑ a b S. E. Sparks, DM Escolar: Congenital muscular dystrophies. In: Handbook of clinical neurology / edited by PJ Vinken and GW Bruyn Volume 101, 2011, pp. 47-79, doi : 10.1016 / B978-0-08-045031-5.00004-9 . PMID 21496624 . (Review).
- ↑ a b M. Alhamidi, E. Kjeldsen Buvang u. a .: Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibers and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction. In: PloS one Volume 6, Number 8, 2011, p. E22968, doi : 10.1371 / journal.pone.0022968 . PMID 21886772 . PMC 316028 (free full text).
- ^ J. Amberger, C. Bocchini, A. Hamosh: A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). In: Human mutation Volume 32, Number 5, May 2011, pp. 564-567, doi: 10.1002 / humu.21466 . PMID 21472891 .