Sequence in raw or FASTA format:
FKRP fukutin related protein [Homo sapiens (human)]
|Entrez Gene ID||79147|
|Full Name||fukutin related protein|
|Synonyms||LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008].|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye
|Homo sapiens (human)||FKRP||NP_001034974.1|
|Pan troglodytes (chimpanzee)||FKRP||XP_001168126.1|
|Macaca mulatta (Rhesus monkey)||FKRP||XP_001112501.1|
|Canis lupus familiaris (dog)||FKRP||XP_005616466.1|
|Bos taurus (cattle)||FKRP||NP_001093184.1|
|Mus musculus (house mouse)||Fkrp||NP_775606.1|
|Rattus norvegicus (Norway rat)||Fkrp||NP_001020849.1|
|Danio rerio (zebrafish)||fkrp||NP_001082959.1|
|Danio rerio (zebrafish)||LOC100535796||XP_003200063.1|
|Drosophila melanogaster (fruit fly)||CG15651||NP_611531.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||fkrp||NP_001120257.1|
|GO:0009101||glycoprotein biosynthetic process||IEA|
|GO:0005791||rough endoplasmic reticulum||IDA|
|GO:0016010||dystrophin-associated glycoprotein complex||IEA|
|GO:0016021||integral component of membrane||IEA|
What is the normal function of the FKRP gene?
The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). This protein is present in many of the body's tissues but is particularly abundant in muscles used for movement (skeletal muscles), the brain, and the heart. Within cells, FKRP is found in a specialized structure called the Golgi apparatus, where newly produced proteins are modified.
Although the exact function of FKRP is unclear, researchers predict that it may chemically modify a protein called alpha (α)-dystroglycan. Specifically, FKRP is thought to add chains of sugar molecules to α-dystroglycan through a process known as glycosylation. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
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