Ataxin 7 (ATXN7) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Recommend Dilution	WB
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	The immunogen for Anti-ATXN7 Antibody: synthetic peptide directed towards the middle region of human ATXN7. Synthetic peptide located within the following region: TRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPP
Isotype	IgG
Formulation	Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Purification	Affinity Purified
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Predicted Protein Size	95 kDa
Gene Name	ataxin 7
Database Link	NP_000324 Entrez Gene 6314 Human UniProt ID O15265
Background	ATXN7 is involved in neurodegeneration. ATXN7 acts as component of the STAGA transcription coactivator-HAT complex. ATXN7 mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation.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 exact function of this gene is not known, however, since the encoded protein contains a nuclear localization sequence, and is found to be localized in the nucleus, it has been postulated to be a potential transcription factor. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene.
Synonyms	ADCAII; OPCA3; SCA7
Note	Immunogen sequence homology: Human: 100%; Bovine: 92%; Dog: 92%; Pig: 92%; Rabbit: 92%; Rat: 92%; Guinea pig: 85%; Horse: 85%; Mouse: 85%; Chicken: 83%
Reference Data

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