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 |