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Product Name ATX2 Chinese Name 脊髓小脑共济失调2型蛋白抗体 Alias Ataxin 2; ATXN2; Olivopontocerebellar ataxia 2, autosomal dominant; SCA2; Spinocerebellar ataxia type 2 protein; TNRC13; Trinucleotide repeat containing gene 13 protein; SRRT_HUMAN. Research Area Cell biology immunology Neurobiology Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, Rat, Chicken, Dog, Pig, Cow, Horse, ) Applications WB=1:500-2000 ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 101kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human ATX2: 775-856/1313 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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. ATX2 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. ATX2 is caused by expansion of a CAG repeat in the coding region of ATX2. Longer expansions result in earlier onset of the disease. There are four named isoforms.
Subunit:
Monomer. Can also form homodimers.
Subcellular Location:
Cytoplasm.
Tissue Specificity:
Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.
Similarity:
Belongs to the ataxin-2 family.
SWISS:
Q99700
Gene ID:
6311
Database links:
Entrez Gene: 6311 Human
Entrez Gene: 20239 Mouse
Omim: 601517 Human
SwissProt: Q99700 Human
SwissProt: O70305 Mouse
Unigene: 76253 Human
Unigene: 260900 Mouse
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