Recombinant Human AHI1 cell lysate

Species :	Human
Tag :	Non
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.
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;