Browse our Fukutin Related Protein Proteins (FKRP)

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Fukutin Related Protein Proteins (FKRP)
On www.antibodies-online.com are 6 Fukutin Related Protein (FKRP) Proteins from 3 different suppliers available. Additionally we are shipping Fukutin Related Protein Antibodies (53) and Fukutin Related Protein Kits (2) and many more products for this protein. A total of 67 Fukutin Related Protein products are currently listed.
Synonyms:
A830029B19Rik, AI842067, AI847300, LGMD1I, LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5, zgc:162829
list all proteins Gene Name GeneID UniProt
FKRP 79147 Q9H9S5
FKRP 243853 Q8CG64
Rat FKRP FKRP 308390  

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Fukutin Related Protein Proteins (FKRP) by Origin

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More Proteins for Fukutin Related Protein Interaction Partners

Zebrafish Fukutin Related Protein (FKRP) interaction partners

  1. Fukutin and FKRP have functions that affect ocular development in zebrafish independently of dystroglycan.

  2. Muscle pathology in embryos lacking Fukutin (show FKTN Proteins) or FKRP is different from loss of dystroglycan; knockdown of Fukutin (show FKTN Proteins) or FKRP leads to a notochord defect and a perturbation of laminin expression before muscle degeneration.

  3. Zebrafish are a useful animal model to reveal the mechanism of muscular dystrophiescaused by mutations in FKRP gene.

  4. It was found that downregulating FKRP in the zebrafish results in embryos which develop a range of abnormalities reminiscent of the developmental defects observed in human muscular dystrophies associated with mutations in FKRP

Human Fukutin Related Protein (FKRP) interaction partners

  1. Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice

  2. The 13 novel mutations of FKRP significantly expanded the mutation spectrum of MDC1C and LGMD2I, and the different founder mutations indicate the ethnic difference in FKRP mutations.

  3. Fukutin (show FKTN Proteins) and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol.

  4. Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication.

  5. This study demonistrated that the higher frequency of LGMD2I with cardiomyopathy in mutation of FKRP in Taiwanese patients.

  6. FKRP co-localises with the middle-to-trans-Golgi marker MG160 (show GLG1 Proteins), between the myofibrils in human rectus femoris muscle fibres.

  7. Mutations in FKRP lead to a glycosylation defect and subsequently downregulation of alpha-dystroglycan which constitutes an essential component of the proteoglycan (show Vcan Proteins)-dystrophin (show DMD Proteins) complex.

  8. Study revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c.826 C>A (p.Leu276Ile) mutation.

  9. Two novel heterozygous mutations (c.208T>A and c.1030G>T) in the FKRP gene were identified in Chinese brothers with progressive shoulder and pelvic muscle weakness

  10. This study identified FKRP mutations on both alleles in 88 patients from 69 families with Limb Girdle Muscular Dystrophy Type 2I.

Mouse (Murine) Fukutin Related Protein (FKRP) interaction partners

  1. This study demonstrated that the Expression of glycosylated alpha-dystroglycan in newborn skeletal and cardiac muscles with FKRP mutation mice.

  2. Reduced Fkrp levels in skeletal muscle are associated with a progressive muscular dystrophy

  3. FKRP mutations are associated with muscular dystrophy.

  4. a reduction in Fkrp influences the ability of tissue-specific forms of alpha-dystroglycan to direct the deposition of several laminin isoforms

  5. investigation of the functional roles of FKRP in muscular dystrophies; FKRP is essential for the functional glycosylation of alpha-dystroglycan;both the mutation itself and the levels of FKRP expression are equally critical for the survival of the animals

  6. Basement membrane (BM) fragility may underlie abnormal phenotypes in fukutin (show FKTN Proteins)-null embryos, and maintenance of BM function may require fukutin (show FKTN Proteins)-mediated glycosylation of alpha-dystroglycan early in embryonic development.

  7. data offer the first evidence of a fukutin-related protein (FKRP) complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin (show DMD Proteins)-glycoprotein complex

  8. results suggest the generation of a mouse model for FKRP related muscular dystrophy requires a knock-down rather than a knock-in strategy in order to give rise to a disease phenotype.

Fukutin Related Protein (FKRP) Protein Profile

Protein 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.

Alternative names and synonyms associated with Fukutin Related Protein (FKRP)

  • fukutin related protein (FKRP)
  • fukutin related protein (fkrp)
  • fukutin related protein (Fkrp)
  • A830029B19Rik protein
  • AI842067 protein
  • AI847300 protein
  • LGMD1I protein
  • LGMD2I protein
  • MDC1C protein
  • MDDGA5 protein
  • MDDGB5 protein
  • MDDGC5 protein
  • zgc:162829 protein

Protein level used designations for Fukutin Related Protein Proteins (FKRP)

fukutin related protein , fukutin-related protein , fukutin-related protein-like

GENE ID SPECIES
431512 Gallus gallus
484426 Canis lupus familiaris
539701 Bos taurus
571426 Danio rerio
716804 Macaca mulatta
746394 Pan troglodytes
100145309 Xenopus (Silurana) tropicalis
100356414 Oryctolagus cuniculus
100385568 Callithrix jacchus
100448398 Pongo abelii
100516858 Sus scrofa
100603615 Nomascus leucogenys
79147 Homo sapiens
243853 Mus musculus
308390 Rattus norvegicus
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