FKTN rabbit pAb

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. [provided by RefSeq, Nov 2010],

Product Specifications

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. [provided by RefSeq, Nov 2010]

UniProt

O75072

Swiss Prot

O75072

Reactivity

Human; Mouse

Immunogen

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

Clonality

Polyclonal

Source

Rabbit

Applications

WB; ELISA

Concentration

1 mg/ml

Dilution

WB 1:500-2000 ELISA 1:5000-20000

Molecular Weight

50kD

Storage Conditions

-20°C/1 year

Observed Molecular Weight

50kD

Fragment

IgG

Subcellular Location

Golgi apparatus membrane ; Single-pass type II membrane protein . Cytoplasm . Nucleus . In retinal tissue, does not localize with the Golgi apparatus. .