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ATXN1 - Gene Detail

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Gene Symbol ATXN1
Synonyms ATX1 | D6S504E | SCA1
Gene Description ATXN1, ataxin 1, is involved in the regulation of multimeric protein complexes in the nucleus and is known to interact with Cic, Rbm17, Gapdh, and Lanp (PMID: 9778246, PMID: 31655597), and is involved in transcriptional regulation of Notch and Cic-dependent developmental processes (PMID: 31655597). A fusion with ATXN1 and NUTM1 has been identified in brain tumors (PMID: 31888756).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
6310 6 6p22.3 NM_001128164 Unknown
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