AHI1 / Jouberin, Blocking Peptide

AHI1; AHI-1; DKFZp686J1653; FLJ14023; FLJ20069; JBTS3; ORF1; dJ71N10.1; Abelson helper integration site; jouberin; Ahi-1 isoform I; OTTHUMP00000017263; OTTHUMP00000017264; OTTHUMP00000017265; contatins SH3 and WD40 domains; Abelson helper integration sit; Jouberin; AHI1 / Jouberin

For Research Use Only. Not for use in diagnostic procedures.

100ug of dried peptide

Shipped at ambient temperature, store at -20 degree C

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of AHI1 blocking peptide 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.

70,047 Da

Abelson helper integration site 1

jouberin

Jouberin

AHI-1  [Similar Products]

AHI1_HUMAN

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]

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: adherens junction; centriole; centrosome; cilium; cytosol; intercellular junction; nonmotile primary cilium

Molecular Function: identical protein binding; protein binding

Biological Process: central nervous system development; cilium biogenesis; heart looping; hindbrain development; morphogenesis of a polarized epithelium; negative regulation of apoptosis; positive regulation of polarized epithelial cell differentiation; positive regulation of receptor internalization; positive regulation of transcription from RNA polymerase II promoter; regulation of behavior; specification of axis polarity; transmembrane receptor protein tyrosine kinase signaling pathway; vesicle-mediated transport

Disease: Joubert Syndrome 3

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