Details for Gene ATXN1

GENE NAME ATXN1
CHROMOSOME 6
ENSEMBL ID ENSG00000124788
ENTREZ ID 6310
UNIPROT ACCESSION NUMBER P54253
GO MOLECULAR FUNCTION protein binding; protein C-terminus binding; identical protein binding; DNA binding; protein self-association; poly(G) binding; poly(U) RNA binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa05022; hsa05017; hsa04330; hsa04330; hsa05022; hsa05017
2 combinations linked to ATXN1 OLI1014; OLI1012
2 variants linked to ATXN1 Copy Number Variant repeat on chromosome 6 repeating None at least 29 times and at most 33 times; Copy Number Variant repeat on chromosome 6 repeating None at least 30 times and at most 34 times
1 disease linked to ATXN1 Amyotrophic lateral sclerosis

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