FKTN rabbit pAb

Applications: WB;ELISA
Reactivity: Human;Mouse
Source: Rabbit
Dilution: WB 1:500-2000 ELISA 1:5000-20000
Immunogen: Synthesized peptide derived from human protein . at AA range: 111-160
Storage_stability: -20°C/1 year
Clonality: Polyclonal
Isotype: IgG
Concentration: 1 mg/ml
Observed_band(KD): 50kD
Human_gene_id: 2218
Human_swiss_prot_no: O75072
Subcellular_location: Golgi apparatus membrane ; Single-pass type II membrane protein . Cytoplasm . Nucleus . In retinal tissue, does not localize with the Golgi apparatus. .
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],