AHI1 (Human) Recombinant Protein (P01)
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More Files
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Specification
Product Description
Human AHI1 full-length ORF ( AAH94800.1, 1 a.a. - 609 a.a.) recombinant protein with GST-tag at N-terminal.
Sequence
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQENEDVFVLISPTMEEY
Host
Wheat Germ (in vitro)
Theoretical MW (kDa)
96.4
Interspecies Antigen Sequence
Mouse (76); Rat (75)
Preparation Method
Purification
Glutathione Sepharose 4 Fast Flow
Quality Control Testing
12.5% SDS-PAGE Stained with Coomassie Blue.
Storage Buffer
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
Note
Best use within three months from the date of receipt of this protein.
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Applications
Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array
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Gene Info — AHI1
Entrez GeneID
54806GeneBank Accession#
BC094800.1Protein Accession#
AAH94800.1Gene Name
AHI1
Gene Alias
AHI-1, DKFZp686J1653, FLJ14023, FLJ20069, JBTS3, ORF1, dJ71N10.1
Gene Description
Abelson helper integration site 1
Gene Ontology
HyperlinkGene Summary
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
Other Designations
OTTHUMP00000017263|OTTHUMP00000017264|OTTHUMP00000017265|contatins SH3 and WD40 domains|jouberin
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Interactome
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Disease
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