Recombinant Human AHI1 cell lysate

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Recombinant Human AHI1 cell lysate

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Cat.No. : AHI1-41HCL
Description : 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.
Species : Human
Size : 100 ul
Storage Buffer : 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
Applications : Western Blot;
Gene Name : AHI1 Abelson helper integration site 1 [ Homo sapiens ]
Official Symbol : AHI1
Synonyms : AHI1; Abelson helper integration site 1; Abelson helper integration site; jouberin; FLJ20069; JBTS3; Jouberin; ORF1; contatins SH3 and WD40 domains; abelson helper integration site 1 protein homolog; AHI-1; dJ71N10.1; FLJ14023; DKFZp686J1653;
Gene ID : 54806
mRNA Refseq : NM_001134830
Protein Refseq : NP_001128302
MIM : 608894
UniProt ID : Q8N157
Chromosome Location : 6q23.2
Function : protein binding;

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