ATXN2

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolATXN2
Nameataxin 2
Typeprotein-coding
Sourcemygene

Summary

This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endo

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This is an externally resolved entity

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