AHI1 anticorps (AA 801-900)
Aperçu rapide pour AHI1 anticorps (AA 801-900) (ABIN872402)
Antigène
Voir toutes AHI1 AnticorpsReactivité
Hôte
Clonalité
Conjugué
Application
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Épitope
- AA 801-900
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Homologie
- Human,Mouse,Rat,Dog,Cow,Sheep,Pig,Horse,Rabbit
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Purification
- Purified by Protein A.
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Immunogène
- KLH conjugated synthetic peptide derived from human AHI1
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Isotype
- IgG
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Indications d'application
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WB 1:300-5000
ELISA 1:500-1000
IHC-P 1:200-400
IHC-F 1:100-500
IF(IHC-P) 1:50-200
IF(IHC-F) 1:50-200
IF(ICC) 1:50-200 -
Restrictions
- For Research Use only
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Format
- Liquid
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Concentration
- 1 μg/μL
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Buffer
- 0.01M TBS( pH 7.4) with 1 % BSA, 0.02 % Proclin300 and 50 % Glycerol.
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Agent conservateur
- ProClin
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Précaution d'utilisation
- This product contains ProClin: a POISONOUS AND HAZARDOUS SUBSTANCE, which should be handled by trained staff only.
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Stock
- 4 °C,-20 °C
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Stockage commentaire
- Shipped at 4°C. Store at -20°C for one year. Avoid repeated freeze/thaw cycles.
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Date de péremption
- 12 months
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- AHI1 (Abelson Helper Integration Site 1 (AHI1))
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Autre désignation
- AHI1
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Sujet
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Synonyms: Abelson helper integration site 1 protein homolog, Abelson helper integration site 1, Abelson helper integration site, AHI 1, AHI-1, Ahi1, AHI1_HUMAN, Contatins SH3 and WD40 domains, JBTS3, Jouberin, ORF1.
Background: Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level).Involvement in disease:Defects in AHI1 are the cause of Joubert syndrome type 3 (JBTS3) . JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.
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ID gène
- 54806
Antigène
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