Specifications
- Antibody Type:Primary
- Antigen Name:ATXN3L
- Clonality:Polyclonal
- Conjugation:Alexa Fluor® 750
- Host:Rabbit
- ImmunoChemistry:Yes
- ImmunoFluorescence:Yes
- Isotype:IgG
- Reactivity:Human
- Western Blot:Yes
- Size:100 µl
- Epitope:251-355/355
- Form:Liquid
- Gene ID:92552
- Antigen Synonyms:ATXN3L|ATX3L_HUMAN|MJDL|Putative ataxin-3-like protein|Machado-Joseph disease protein 1-like
- Modification:Unmodified
- Storage Buffer:Aqueous buffered solution containing 0.01 M TBS (pH 7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol
- Molecular Weight:41 kDa
- Storage Temperature:Store at −20 °C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.
- Concentration:1 µg/µl
- Shipping Temperature:4 °C
- Immunogen:KLH conjugated synthetic peptide derived from human ATXN3L
- Tested Applications:ICC
- Purification:Purified by Protein A
- Cat. No.:76079-180
- Packaging:Vial
Specifications
About this item
Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) ; also known as Machado-Joseph disease (MJD). 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 degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA3 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. The molecular defect in SCA3 is the a CAG repeat expansion in ATXN3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
Type: Primary
Antigen: ATXN3L
Clonality: Polyclonal
Clone:
Conjugation: ALEXA FLUOR® 750
Public Immunogen Range: 251-355/355
Host: Rabbit
Isotype: IgG
Reactivity: Human