A1385
Fukutin Rabbit monoclonal antibody
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- SKU:
- A1385
- Zusätzliche Namen:
- CMD1X|FCMD|Fukutin|LGMD2M|LGMDR13|MDDGA4|MDDGB4|MDDGC4
- Anwendung:
- ELISA, WB, IHC-P
- Molekulargewicht:
- 54kDa
- Spezies-Reaktivität:
- Human
- Aufreinigung:
- Affinity Purified
- Lagerbedingungen:
- -20[o]C Avoid freeze/thaw cycles.
- Hersteller:
- Abclonal
- Host:
- Rabbit
- Reaktivitäten:
- Human, Mouse, Rat
- Immunogen:
- Synthetic peptide. This information is considered to be commercially sensitive.
- Formulierung:
- Unmodified
- Sequenz:
- DVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY
- Uniprot:
- O75072
- Synonyme:
- CMD1X;FCMD;fukutin;Fukuyama type congenital muscular dystrophy protein;Fukuyama-type congenital muscular dystrophy protein;LGMD2M;LGMDR13;MDDGA4;MDDGB4;MDDGC4;patient fukutin;ribitol-5-phosphate transferase
- Weitere Details:
- The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene.
- Versandbedingungen:
- Blue Ice