Recombinant Human FKTN Protein (His Tag) is a Human Full Length protein, in the 1 to 461 aa range, expressed in Escherichia coli, with >85% purity and suitable for SDS-PAGE.
M S R I N K N V V L A L L T L T S S A F L L F Q L Y Y Y K H Y L S T K N G A G L S K S K G S R I G F D S T Q W R A V K K F I M L T S N Q N V P V F L I D P L I L E L I N K N F E Q V K N T S H G S T S Q C K F F C V P R D F T A F A L Q Y H L W K N E E G W F R I A E N M G F Q C L K I E S K D P R L D G I D S L S G T E I P L H Y I C K L A T H A I H L V V F H E R S G N Y L W H G H L R L K E H I D R K F V P F R K L Q F G R Y P G A F D R P E L Q Q V T V D G L E V L I P K D P M H F V E E V P H S R F I E C R Y K E A R A F F Q Q Y L D D N T V E A V A F R K S A K E L L Q L A A K T L N K L G V P F W L S S G T C L G W Y R Q C N I I P Y S K D V D L G I F I Q D Y K S D I I L A F Q D A G L P L K H K F G K V E D S L E L S F Q G K D D V K L D V F F F Y E E T D H M W N G G T Q A K T G K K F K Y L F P K F T L C W T E F V D M K V H V P C E T L E Y I E A N Y G K T W K I P V K T W D W K R S P P N V Q P N G I W P I S E W D E V I Q L Y
Application | Reactivity | Dilution info | Notes |
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Application SDS-PAGE | Reactivity Reacts | Dilution info - | Notes - |
Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:26923585, PubMed:27194101, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:27194101, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).
FCMD, FKTN, Ribitol-5-phosphate transferase FKTN, Fukutin, Fukuyama-type congenital muscular dystrophy protein, Ribitol-5-phosphate transferase
Recombinant Human FKTN Protein (His Tag) is a Human Full Length protein, in the 1 to 461 aa range, expressed in Escherichia coli, with >85% purity and suitable for SDS-PAGE.
pH: 7.4 - 8
Constituents: 6% Trehalose, 0.87% Sodium chloride, 0.24% Tris, 0.05% 2-Octadecoxyethanol
Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:26923585, PubMed:27194101, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:27194101, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).
Belongs to the LicD transferase family.
Fukutin also known as FKRP or FKTN is a glycosyltransferase enzyme weighing approximately 55 kDa. This protein participates in the process of adding sugar chains to proteins primarily glycosylating α-dystroglycan. Fukutin is highly expressed in muscle tissues including skeletal and cardiac muscles and plays a role in the central nervous system. Its activity is important for the proper function of these tissues.
Fukutin plays a fundamental role in maintaining the structure and function of muscle cells by participating in the glycosylation of α-dystroglycan. This modification allows α-dystroglycan to bind to extracellular matrix proteins. Fukutin operates as part of the dystrophin-glycoprotein complex which is essential for muscle integrity and stability. This complex anchors the cytoskeleton of a muscle cell to the surrounding extracellular matrix.
This protein fukutin participates in the dystroglycan pathway affecting the integrity of muscle cells. It works closely with other proteins like LARGE1 which also modifies α-dystroglycan. Fukutin's activity ensures that α-dystroglycan has the necessary post-translational modifications to perform its function within the laminin-binding pathway linking the extracellular matrix to the cytoskeleton.
Alterations in fukutin mutations can lead to muscular dystrophies such as Fukuyama congenital muscular dystrophy and Walker-Warburg syndrome. In these conditions the fukutin-related glycosylation of α-dystroglycan is disrupted which impairs muscle cell stability and function. Other proteins like dystrophin and sarcoglycans associated with the dystrophin-glycoprotein complex also play roles in these disorders further linking fukutin to muscle disease mechanisms.
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(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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