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Anti-ATXN1 Antibody

品牌：Antibodies

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规格：100µl

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Anti-ATXN1 Antibody

商品详情参考文献相关资料

Overview

Name:	Anti-ATXN1 Antibody See all ATXN1 primary antibodies
Description:	Rabbit polyclonal antibody to ATXN1
Specificity:	The antibody detects endogenous level of total ATXN1 antibody.
Applications:	WB, IF
Reactivity:	Human, Mouse, Rat
Immunogen:	Recombinant protein of human ATXN1.
Host:	Rabbit
Clonality:	Polyclonal
Conjugate:	Unconjugated
Purification:	Antibodies were purified by affinity purification using immunogen.
Concentration:	1.0mg / ml
Formulation:	Supplied at 1.0mg / mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Storage:	Store at -20˚C

Target

Function:	Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism.
Tissue Specificity:	Widely expressed throughout the body.
Involvement in Disease:	Spinocerebellar ataxia 1: 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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
Sequence Similarities:	Belongs to the ATXN1 family.
Post-Translational Modification:	Ubiquitinated by UBE3A, leading to its degradation by the proteasome. The presence of expanded poly-Gln repeats in spinocerebellar ataxia 1 (SCA1) patients impairs ubiquitination and degradation, leading to accumulation of ATXN1 in neurons and subsequent toxicity.
Cellular locations:	Cytoplasm. Nucleus. Colocalizes with USP7 in the nucleus.
Database Links:	Entrez Gene: 6310 Human Entrez Gene: 20238 Mouse Entrez Gene: 25049 Rat Omim: 601556 Human SwissProt: P54253 Human SwissProt: P54254 Mouse SwissProt: Q63540 Rat Unigene: 434961 Human Unigene: 342683 Mouse Unigene: 342686 Mouse Unigene: 88438 Rat
Synonyms:	alternative ataxin1 Antibody Ataxin 1 Antibody Ataxin-1 Antibody ATX1 Antibody ATX1_HUMAN Antibody Atxn1 Antibody D6S504E Antibody OTTHUMP00000016065 Antibody SCA1 Antibody Spinocerebellar ataxia type 1 protein Antibody
Information:	Target information shown above is from the UniProt Consortium.