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FKTN

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.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Oligodendrocytes, Inhibitory neurons, Excitatory neurons, Oligodendrocyte precursor cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Low cell line specificity

Interaction

Forms a complex composed of FKTN/fukutin, FKRP and RXYLT1/TMEM5 (PubMed:29477842). Interacts (via transmembrane domain) with POMGNT1; the interaction is direct and is required for normal POMGNT1 location in Golgi membranes (PubMed:17034757).

Molecular function

Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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