Recombinant Human AHI1 cell lysate

• Cat.No.: AHI1-41HCL

Specification

• 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
• Tag: Non

Gene Information

• 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