|Other Names||Ataxin-7, Spinocerebellar ataxia type 7 protein, ATXN7, SCA7|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization.|
|Cellular Location||Isoform a: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. Note=In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus. It is able to shuttle between the nucleus and cytoplasm|
|Tissue Location||Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the peripherical tissues. Isoform b is 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|
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The autosomal dominant cerebellar ataxias (ADCA) are aheterogeneous group of neurodegenerative disorders characterized byprogressive degeneration of the cerebellum, brain stem and spinalcord. Clinically, ADCA has been divided into three groups: ADCAtypes I-III. ADCAI is genetically heterogeneous, with five geneticloci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6,being assigned to five different chromosomes. ADCAII, which alwayspresents with retinal degeneration (SCA7), and ADCAIII oftenreferred to as the 'pure' cerebellar syndrome (SCA5), are mostlikely homogeneous disorders. Several SCA genes have been clonedand shown to contain CAG repeats in their coding regions. ADCA iscaused by the expansion of the CAG repeats, producing an elongatedpolyglutamine tract in the corresponding protein. The expandedrepeats are variable in size and unstable, usually increasing insize when transmitted to successive generations. This locus hasbeen mapped to chromosome 3, and it has been determined that thediseased allele associated with spinocerebellar ataxia-7 contains38-130 CAG repeats (near the N-terminus), compared to 7-17 in thenormal allele. The encoded protein is a component of theSPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-freeTAF-containing (TFTC) chromatin remodeling complexes, and it thusplays a role in transcriptional regulation. Alternative splicingresults in multiple transcript variants.
Bonnet, J., et al. EMBO Rep. 11(8):612-618(2010)Han, Y., et al. Neurol India 58(4):622-626(2010)Chou, A.H., et al. Neurochem. Int. 56(2):329-339(2010)Mookerjee, S., et al. J. Neurosci. 29(48):15134-15144(2009)Freund, A.A., et al. Arq Neuropsiquiatr 67(4):1124-1132(2009)
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