Fukutin-related protein
| FKRP | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 19: 46.75 – 46.78 Mb | Chr 7: 16.54 – 16.55 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Fukutin-related protein (FKRP) is also known as FKRP_HUMAN, LGMD2I, MDC1C, MDDGA5, MDDGB5, and MDDGC5. FKRP can be located in the brain, cardiac muscle and skeletal muscle, and in cells it is found in the Golgi apparatus.[5] Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons.[6]
The genomic location of the FKRP gene is on chromosome 19. FKRP is a ribitol-5-phosphate (enzyme) glycosyltranferase, which means this enzyme helps create glycosidic linkages to an acceptor. In glycosylation of α-dystroglycan (sugar chain) it adds a ribitol-5-phosphate onto the M3 core O-mannosylation of α-dystroglycan to create O-linked mannosylation.[7] Without this linkage α-dystroglycan will not function properly, this can cause issues with the cytoskeleton, and extracellular matrix. In skeletal muscles the α-dystroglycan helps stabilize and protect muscle fibers, in the brain it directs movement of nerve cells.[8] This could be caused by mutations that binds ribitol-5-phosphate to the α-dystroglycan incorrectly. These mutations have been found to be associated with congenital muscular dystrophy, dystroglycanopathies, and Walker-Warburg syndrome.[9] The severity of these diseases are correlated to the amount of mutations occurring. Possible therapy options for FKRP mutations include small molecules, gene delivery, and cell therapy.
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000181027 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048920 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "FKRP gene: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-05-05.
- PMID 29416295.
- PMID 33272829.
- ^ "FKRP gene: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-05-05.
- PMID 16476814.
External links
- GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
- LOVD mutation database: FKRP
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