関連性Ataxin 7 is a protein of unknown function. It may be the human orthologue of the yeast SAGA SGF73 subunit and a subunit of the human TFTC-like transcriptional complexes.
Spinocerebellar ataxia 7 (one of a group of hereditary neurodegenrative diseases) is caused by an expanded trinucleotide repeat in the gene encoding ataxin 7.
Ataxin 7 is typically located in the cytoplasm and on the nuclear membrane of normal brain neurons. In cells where there is a mutation of the SCA7 gene, ataxin 7 accumulates in intranuclear inclusions and can result in cell death.
細胞内局在Cytoplasmic (isoform b) and Nuclear (isoform a)