Product Name
Jouberin (AHI1), Polyclonal Antibody
Full Product Name
Jouberin antibody
Product Synonym Names
ORF1; AHI-1; JBTS3; FLJ14023; FLJ20069; dJ71N10.1; DKFZp686J1653
Product Gene Name
anti-AHI1 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Purity/Purification
Purified by antigen-affinity chromatography.
Form/Format
Supplied in 0.1M Tris-buffered saline with 10% Glycerol (pH7.0). 0.01% Thimerosal was added as a preservative.
Immunogen Description
Synthetic peptide contain a sequence corresponding to a region within amino acids 1 and 12 of Jouberin
Preparation and Storage
Store at -20 degree C for long term preservation (recommended). Store at 4 degree C for short term use.
Other Notes
Small volumes of anti-AHI1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-AHI1 antibody
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq]
Product Categories/Family for anti-AHI1 antibody
Total protein Ab
Applications Tested/Suitable for anti-AHI1 antibody
Western Blot (WB)
Application Notes for anti-AHI1 antibody
Western blotting: 1:500-1:3000
Testing Data of anti-AHI1 antibody
Sample (30 ug of whole cell lysate) A: NT2D1 5% SDS PAGE Primary antibody diluted at 1: 1000
NCBI/Uniprot data below describe general gene information for AHI1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_060121
[Other Products]
NCBI GenBank Nucleotide #
NM_017651.4
[Other Products]
UniProt Secondary Accession #
Q4FD35; Q504T3; Q5TCP9; Q6P098; Q6PIT6; Q8NDX0; Q9H0H2; E1P584[Other Products]
UniProt Related Accession #
Q8N157[Other Products]
Molecular Weight
70,047 Da[Similar Products]
NCBI Official Full Name
jouberin isoform a
NCBI Official Synonym Full Names
Abelson helper integration site 1
NCBI Official Symbol
AHI1??[Similar Products]
NCBI Official Synonym Symbols
ORF1; AHI-1; JBTS3; dJ71N10.1
??[Similar Products]
NCBI Protein Information
jouberin
UniProt Protein Name
Jouberin
UniProt Synonym Protein Names
Abelson helper integration site 1 protein homolog; AHI-1
UniProt Gene Name
AHI1??[Similar Products]
UniProt Synonym Gene Names
AHI-1??[Similar Products]
UniProt Entry Name
AHI1_HUMAN
NCBI Summary for AHI1
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
UniProt Comments for AHI1
AHI1: is up-regulated at all stages of chronic myeloid leukemia (CML). Down-regulated during early differentiation of normal hematopoietic cells. The AHI-1 gene is activated by insertional mutagenesis in mouse models of leukemia. Important for cerebellar and cortical development, and axonal decussation. Mutations of the AHI-1 gene are associated with Joubert syndrome. 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. Genetic analysis indicates that it is important in the development of human-specific motor behaviors. Three alternatively spliced isoforms have been described.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 6q23.3
Cellular Component: centriole; centrosome; adherens junction; photoreceptor outer segment; nonmotile primary cilium; intercellular junction; cilium
Molecular Function: identical protein binding; protein binding
Biological Process: vesicle-mediated transport; positive regulation of polarized epithelial cell differentiation; central nervous system development; protein localization in organelle; vesicle targeting; positive regulation of receptor internalization; specification of axis polarity; cilium biogenesis; positive regulation of transcription from RNA polymerase II promoter; heart looping; transmembrane receptor protein tyrosine kinase signaling pathway; morphogenesis of a polarized epithelium; negative regulation of apoptosis; regulation of behavior; hindbrain development
Disease: Joubert Syndrome 3
Research Articles on AHI1
1. Joubert syndrome-associated missense mutations alter the subcellular distribution and protein interactions of AHI1.
Precautions
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Disclaimer
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