Q156A1
uniprot
Q156A1
canonical
amino_acid_sequence
MQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQ
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 8 (SCA8) [MIM:608768]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons. {ECO:0000269|PubMed:16804541}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
10272
uniprot
proteins
pubmed
16804541
uniprot
proteins
sequence_length
80
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16804541}. Note=Present in SCA8-specific 1C2-positive intranuclear inclusions.
uniprot
proteins