Fukutin-related protein

FKRP
Identifiers
Aliases	FKRP, LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5, fukutin related protein, LGMDR9, FKTR
External IDs	OMIM: 606596 MGI: 2447586 HomoloGene: 11513 GeneCards: FKRP
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.32 Start 46,746,046 bp[1] End 46,776,988 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 A2 Start 16,543,171 bp[2] End 16,550,657 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve gastrocnemius muscle left uterine tube anterior pituitary right coronary artery stromal cell of endometrium tibialis anterior muscle popliteal artery left coronary artery left lobe of thyroid gland Top expressed in knee joint triceps brachii muscle vastus lateralis muscle skeletal muscle tissue temporal muscle sternocleidomastoid muscle digastric muscle otolith organ extraocular muscle utricle More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity dystroglycan binding Cellular component extracellular region Golgi apparatus dystrophin-associated glycoprotein complex Golgi membrane sarcolemma plasma membrane membrane rough endoplasmic reticulum integral component of membrane endoplasmic reticulum extracellular space nucleus cytosol cytoplasm Biological process protein processing protein O-linked mannosylation protein glycosylation glycoprotein biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79147 243853 Ensembl ENSG00000181027 ENSMUSG00000048920 UniProt Q9H9S5 Q8CG64 RefSeq (mRNA) NM_001039885 NM_024301 NM_173430 NM_001358846 RefSeq (protein) NP_001034974 NP_077277 NP_775606 NP_001345775 Location (UCSC) Chr 19: 46.75 – 46.78 Mb Chr 7: 16.54 – 16.55 Mb PubMed search [3] [4]
Wikidata
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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

• Fukutin

References

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
• LOVD mutation database: FKRP

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