Recombinant Human Ataxin-1 (ATXN1), Truncated

Cat.No	ACP22911	Target Name	ATXN1
Target Synonyms	alternative ataxin1; Ataxin-1; ATX1; ATX1_HUMAN; Atxn1; D6S504E; OTTHUMP00000016065; SCA1; Spinocerebellar ataxia type 1 protein	Form	Lyophilized powder
Expression System	Custom Production. Please inquire and provide the desire expression system.	Protein Length	Partial
Purity	>85% (SDS-PAGE)	Storage Buffer	5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Cat.No

ACP22911

Target Name

ATXN1

Target Synonyms

alternative ataxin1; Ataxin-1; ATX1; ATX1_HUMAN; Atxn1; D6S504E; OTTHUMP00000016065; SCA1; Spinocerebellar ataxia type 1 protein

Form

Lyophilized powder

Expression System

Custom Production. Please inquire and provide the desire expression system.

Protein Length

Partial

Purity

>85% (SDS-PAGE)

Storage Buffer

5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Target Species	Human	Uniprot ID	P54253

Background Information

Uniprot Id

P54253
Target Species

Human
Target Name

ATXN1
Target Full Name

Ataxin-1
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. In concert with CIC and ATXN1L, involved in brain development.
Target Involvement

Spinocerebellar ataxia 1 (SCA1)
Target Subcellular Location

Cytoplasm. Nucleus.
Target Protein Families

ATXN1 family
Target Tissue Specificity

Widely expressed throughout the body.
Target Synonyms

alternative ataxin1; Ataxin-1; ATX1; ATX1_HUMAN; Atxn1; D6S504E; OTTHUMP00000016065; SCA1; Spinocerebellar ataxia type 1 protein
Target Background

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. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames.

Recombinant Human Ataxin-1 (ATXN1), Truncated

Specifications

Immunogen Information

Inquire Recombinant Human Ataxin-1 (ATXN1), Truncated Now

Related Products