ATXN7 一抗-ATXN7 Primary antibody代理/参数/厂家-一抗-艾美捷科技有限公司

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背景资料: The autosomal dominant cerebellar ataxias (ADCA) are anheterogeneous group of neurodegenerative disorders characterized bynprogressive degeneration of the cerebellum, brain stem and spinalncord. Clinically, ADCA has been divided into three groups: ADCAntypes I-III. ADCAI is genetically heterogeneous, with five geneticnloci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6,nbeing assigned to five different chromosomes. ADCAII, which alwaysnpresents with retinal degeneration (SCA7), and ADCAIII oftennreferred to as the 'pure' cerebellar syndrome (SCA5), are mostnlikely homogeneous disorders. Several SCA genes have been clonednand shown to contain CAG repeats in their coding regions. ADCA isncaused by the expansion of the CAG repeats, producing an elongatednpolyglutamine tract in the corresponding protein. The expandednrepeats are variable in size and unstable, usually increasing innsize when transmitted to successive generations. This locus hasnbeen mapped to chromosome 3, and it has been determined that thendiseased allele associated with spinocerebellar ataxia-7 containsn38-130 CAG repeats (near the N-terminus), compared to 7-17 in thennormal allele. The encoded protein is a component of thenSPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-freenTAF-containing (TFTC) chromatin remodeling complexes, and it thusnplays a role in transcriptional regulation. Alternative splicingnresults in multiple transcript variants.

免疫原: This ATXN7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 354-381 amino acids from the Central region of human ATXN7.

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