Function
Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex. Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation. Probably involved in tethering the deubiquitination module within the SAGA complex.
Biological Context
Subcellular Location: Cytoplasm
Tissue Specificity: Isoform b is expressed in CNS. Also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is expressed at a lower level in the lung, lymphoblast and intestine
Disease Association: Spinocerebellar ataxia 7 (SCA7) : 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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Ataxin-7 (ATXN7), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 79-401aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 43.1kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
