Recombinant Human AHI1 cell lysate
- Specification
- Gene Information
- Related Products
| 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; |
Products Types
Related Gene
AHI1
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
