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FKTN Polyclonal Antibody

CAT: 0763-E-AB-19886-01Size: 20 µLDry Ice: NoHazardous: No
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CAT#:0763-E-AB-19886-01Size:20 µL
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24/48H Stock Items & 2 to 6 Weeks non Stock Items.
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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.
Abbreviation
FKTN
UniProt
O75072
Host
Rabbit
Reactivity
Human; Mouse
Immunogen
Synthetic peptide of human FKTN
Target
CMD1X; FCMD; FCMD gene; FKTN; FKTN; Fukutin; Fukuyama type congenital muscular dystrophy protein; Fukuyama-type congenital muscular dystrophy protein; LGMD2M; MDDGA4; MDDGB4; MDDGC4; MGC126857; MGC134944; MGC134945; MGC138243; OTTHUMP00000021841; patient fukutin
Clonality
Polyclonal
Conjugation
Unconjugated
Applications
WB
Field of Research
Cancer; Developmental biology; Tags and Cell markers
Purification
Antigen affinity purification
Concentration
1.08 mg/mL
Dilution
WB 1:500-1:2000
Buffer
PBS with 0.05% NaN3 and 40% Glycerol, pH7.4
Shipping Conditions
The product is shipped with ice pack, upon receipt, store it immediately at the temperature recommended.
Storage Conditions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.
Calculated Molecular Weight
54 kDa
Observed Molecular Weight
Refer to figures
Isotype
IgG

UniProtKB · O75072

Ribitol-5-phosphate transferase FKTN

FKTN_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
O75072
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
FKTN
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
2.7.8.-
Processing
—
Secondary accessions
B4DUX9, J3KP13, Q3MIJ1, Q96TE1, Q9P295
Protein keywords

Coding sequence diversity

Alternative splicing

Disease

CardiomyopathyCongenital muscular dystrophyDisease variantDystroglycanopathyLimb-girdle muscular dystrophyLissencephaly

Cellular component

CytoplasmGolgi apparatusMembraneNucleus

PTM

Glycoprotein

Technical term

Proteomics identificationReference proteome

Domain

Signal-anchorTransmembraneTransmembrane helix

Molecular function

Transferase

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