Anti-ATXN7 Antibody (DPABT-H21174)

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Immunogen
Peptide
Conjugate
Unconjugated

Target


Alternative Names
ATXN7; ataxin 7; SCA7, spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration); ataxin-7; ADCAII; OPCA3
Entrez Gene ID
UniProt ID

Product Background


Gene summary
ATXN7 (Ataxin 7) is a Protein Coding gene. Diseases associated with ATXN7 include spinocerebellar ataxia 7 and retinal degeneration. Among its related pathways are Akt Signaling and Chromatin organization. GO annotations related to this gene include chromatin binding. An important paralog of this gene is ATXN7L2. The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants.
Antigen Description
Spinocerebellar ataxia 7 (SCA7) [MIM:164500]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. The function about ATXN7 antigen include chromatin binding; protein binding; zinc ion binding.

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We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody. Learn More

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References


Lindenberg, KS; Yvert, G; et al. Expression analysis of ataxin-7 mRNA and protein in human brain: Evidence for a widespread distribution and focal protein accumulation. BRAIN PATHOLOGY 10:385-394(2000).
Cancel, G; Duyckaerts, C; et al. Distribution of ataxin-7 in normal human brain and retina. BRAIN 123:2519-2530(2000).

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