Target intelligence / Profile preview

Dystrotelin (DYTN)

Target
DYTN
Molecular classification
Other (dystrophin superfamily protein)
01

Overview

Dystrotelin (DYTN) is a protein-coding gene in humans, belonging to the dystrophin superfamily and characterized by four EF-hand motifs and a ZZ-domain. It is likely an ortholog of the Drosophila 'discontinuous actin hexagon' gene, but differs between species in coding exons and may be evolving toward a pseudogene in humans, as transcripts that include two critical exons are targeted by nonsense-mediated decay and those omitting them are only expressed at low levels. While it maintains an intact coding sequence, its function is uncertain, and it has not been well-characterized as a therapeutic target. Its only clear molecular annotation is "calcium ion binding," and some paralogy and predicted function data exist based on its superfamily membership. Predicted roles (primarily from mouse data) suggest possible involvement in synaptic signaling and zinc ion binding, but this is not confirmed for the human protein. There are no known drugs targeting dystrotelin, nor is there evidence of its use as a biomarker or therapeutic target. Note: Dystrotelin is not recognized as a well-established therapeutic target, has uncertain biological function, and its protein-coding status may be subject to future revision. It is likely an incorrect or poorly defined selection for therapeutic or drug-target focused analysis.

Other names
DystrotelinDYTN
02

Biological functions

Calcium ion binding (predicted)possible involvement in synaptic signaling (predicted for mouse ortholog)
03

Disease associations

Other (associations reported with hemidystonia, Leber optic atrophy and dystonia, but roles are unclear)

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