• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


FKRP fukutin related protein [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001039885 Homo sapiens fukutin related protein (FKRP), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_024301 Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005259247 PREDICTED: Homo sapiens fukutin related protein (FKRP), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005259248 PREDICTED: Homo sapiens fukutin related protein (FKRP), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005259249 PREDICTED: Homo sapiens fukutin related protein (FKRP), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005259250 PREDICTED: Homo sapiens fukutin related protein (FKRP), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006723373 PREDICTED: Homo sapiens fukutin related protein (FKRP), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006723374 PREDICTED: Homo sapiens fukutin related protein (FKRP), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006723375 PREDICTED: Homo sapiens fukutin related protein (FKRP), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

Related Services

Gene Symbol FKRP
Entrez Gene ID 79147
Full Name fukutin related protein
Synonyms LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
General protein information
Preferred Names
fukutin-related protein
Names
fukutin-related protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.32

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].
Disorder

MIM: 606596

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

mRNA Protein Product Sequence Price Select
NM_001039885, 209574324 NP_001034974, 89941475 fukutin-related protein ORF Sequence $550.00
NM_024301, 209574323 NP_077277, 13236528 fukutin-related protein ORF Sequence $550.00
XM_005259247, 530417229 XP_005259304, 530417230 fukutin-related protein isoform X2 ORF Sequence $550.00
XM_005259248, 530417231 XP_005259305, 530417232 fukutin-related protein isoform X3 ORF Sequence $550.00
XM_005259249, 578834875 XP_005259306, 530417234 fukutin-related protein isoform X4 ORF Sequence $550.00
XM_005259250, 578834878 XP_005259307, 530417236 fukutin-related protein isoform X5 ORF Sequence $550.00
XM_006723373, 578834873 XP_006723436, 578834874 fukutin-related protein isoform X6 ORF Sequence $550.00
XM_006723374, 578834876 XP_006723437, 578834877 fukutin-related protein isoform X7 ORF Sequence $550.00
XM_006723375, 578834879 XP_006723438, 578834880 fukutin-related protein isoform X8 ORF Sequence $550.00
Homo sapiens (human)FKRPNP_001034974.1
Pan troglodytes (chimpanzee)FKRPXP_001168126.1
Macaca mulatta (Rhesus monkey)FKRPXP_001112501.1
Canis lupus familiaris (dog)FKRPXP_005616466.1
Bos taurus (cattle)FKRPNP_001093184.1
Mus musculus (house mouse)FkrpNP_775606.1
Rattus norvegicus (Norway rat)FkrpNP_001020849.1
Danio rerio (zebrafish)fkrpNP_001082959.1
Danio rerio (zebrafish)LOC100535796XP_003200063.1
Drosophila melanogaster (fruit fly)CG15651NP_611531.2
Xenopus (Silurana) tropicalis (western clawed frog)fkrpNP_001120257.1
Process
IDNameEvidence
GO:0009101glycoprotein biosynthetic processIEA
GO:0016485protein processingIEA
Component
IDNameEvidence
GO:0000139Golgi membraneIEA
GO:0005615extracellular spaceIDA
GO:0005791rough endoplasmic reticulumIDA
GO:0005794Golgi apparatusIDA
GO:0016010dystrophin-associated glycoprotein complexIEA
GO:0016021integral component of membraneIEA
GO:0042383sarcolemmaIEA
Function
IDNameEvidence
GO:0016740transferase activityIEA
GeneCards FKRP
UniProt Q9H9S5
Vega OTTHUMG00000183177
MIM 606596
Ensembl ENSG00000181027
HGNC 17997
HPRD 05962

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.