Product info:

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). At least two transcript variants encoding the same protein have been found for this gene.

Alternative names:

ATXN1; ATX1; D6S504E; SCA1; ataxin-1

Species reactivity:

Human, Mouse, Rat

Host:

Rabbit

Cellular localisation:

Cytoplasm, Nucleus

Isotype:

IgG

Immunogen:

Recombinant fusion protein containing a sequence corresponding to amino acids 586-815 of human ATXN1 (NP_001121636.1).

Positive control:

A-431, 293T, HT-29, NCI-H460, SKOV3, Mouse brain, Mouse heart, Mouse lung, Rat brain

AA Sequence:

ELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSKLSVGDVCISLTLKNLKNGSVKKGQPVDPASVLLKHSKADGLAGSRHRYAEQENGINQGSAQMLSENGELKFPEKMGLPAAPFLTKIEPSKPAATRKRRWSAPESRKLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK

Purification:

Affinity purification

Molecular weight:

Calculated MW: 86kDa Observed MW: 87kDa

Form:

Liquid

Applications:

Request info at info@sobekbio.com

Dilution:

WB 1:500 - 1:2000 IF 1:10 - 1:100

Storage buffer:

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Storage:

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

More info:

Email: info@sobekbio.com

Orders:

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