Background:

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.

Classification:

Primary antibody

Alternative names:

Fukutin ;EC 2.-.-.-;Fukuyama-type congenital muscular dystrophy protein

Species reactivity:

Human, Mouse

Host:

Rabbit

Isotype:

IgG

Immunogen:

Synthesized peptide derived from human protein . at AA range: 111-160

Concentration:

1 mg/ml

Molecular weight:

Applications:

WB, ELISA

Storage:

-20°C for 1 year

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