Gene Detail


Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at :

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).
Additional content available in CKB BOOST