RM6699

Fukutin (7I3) Rabbit Monoclonal Antibody

CMD1X; FCMD; FKTN; Fukutin; LGMD2M; MDDGA4; MDDGB4; MDDGC4;

Affinity-chromatography

常规抗体

FKTN

FCMD

WB

Human,Mouse,Rat

Rabbit IgG in phosphate buffered saline , pH 7.4, 150mM NaCl, 0.02% New type preservative N and 50% glycerol. Store at +4°C short term. Store at -20°C long term. Avoid freeze / thaw cycle.

2218

O75072

WB 1:500~1:2000 IHC 1:50~1:200

54kDa

Rabbit IgG

Fukutin Antibody is for research use only and not for use in diagnostic or therapeutic procedures.

Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMed:11115853) Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853). No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853)

Golgi apparatus membrane; Single-pass type II membrane protein. Cytoplasm {ECO:0000250|UniProtKB:Q8R507}. Nucleus {ECO:0000250|UniProtKB:Q8R507}. Note=In retinal tissue, does not localize with the Golgi apparatus. {ECO:0000250|UniProtKB:Q8R507}

Catalyzes the transfer of 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:17034757, PubMed:25279699, PubMed:26923585, 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: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).

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