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.

Pack Size

100ul, 1ml, 20ul

Applications

ELISA, IHC-P, WB

Host Species

Rabbit

Ig Isotype

IgG

Antibody Type

Monoclonal Antibody

Organism Species

Human

Concentration

Product Synonyms

Fukutin

Observed Mol Wt

54kDa

Alternative Names

FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4; LGMDR13; Fukutin

Immunogen (Antigen)

synthetic peptide

Format

Liquid

Buffer Formulation

0.05% BSA, 50% glycerol, PBS with 0.02% sodium azide, pH7.3

Reactivity

Human, Mouse, Rat

Uniprot ID

2218

Gene ID

O75072

Potency (Clone Number)

ARC2559

Purification

Antigen-specific affinity chromatography followed by Protein A affinity chromatography

Usage

For Research Use Only. Not for diagnostics or human use.

Shelf Life

12 months at time of shipping

Shipping

Shipped in Dry Ice at -20 Degree Celsius

Storage

Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody.

Research Areas

Cell Biology, Developmental Biology, Immunology

KD/KO Validated

KD Validated

Disclaimer

The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use.

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