Fukutin

BT-AP15606

Rabbit

IgG

100ul,50ul,20ul

Polyclonal

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

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

-20°C for 1 year

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.

Human: O75072; Mouse: Q8R507;

Human: 2218

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

Developmental biology; Tags & cell markers

FKTN