Early identification of defective variants of ALMS1 provide better management and options for prenatal diagnosis. Creative Biolabs is proactive and takes pride in the honesty and transparency we bring to the table. Our solution is based on the ALMS1 and tailored to meet your specific individual requirements and goals, ensuring full satisfaction. From initial method evaluation to study development improvements, we stay on track to meet your goals and keep you informed and involved every step of the way.
Introduction
ALMS1 gene is the only one identified to be associated with the pathogenesis of Alstrom syndrome (AS). It encompasses 23 exons and codes for a 461 kDa protein with 4,169 aa. The exons 8, 10, and 16 are marked as mutational hotspots. ALMS1 is a ubiquitous protein that localizes to centrosomes and basal bodies of ciliated cells. Studies revealed that the depletion of ALMS1 gene inhibits the signal transduction through the TGF-β/SMAD3/SNAI1, which could be affecting the cell migration capacity and epithelial-mesenchymal transition (EMT).
Diagnostics Powder
Two independent genome-wide association studies discovered single nucleotide polymorphisms (SNPs) in ALMS1 locus associated with glomerular filtration rate (GFR) and chronic kidney disease.
Research Points
- Determining how ALMS1 affects mitochondrial activity, cell cycle, apoptosis, and signal transduction is important to understanding how multi-organ fibrosis occurs in ALMS.
- Alternatively, spliced transcripts encoding different isoforms of the ALMS1 protein have been described but the exon structure of individual cDNAs has not yet been conclusively identified.
Fig.2 ALMS1 research area.
We Have Your Biomarker Assay Needs Covered
Creative Biolabs has a dedicated biomarker lab and additional capacity integrated into our bioanalytical lab and our central lab to achieve customized assay solution for each project. We help shape your biomarker strategy to ensure actionable results that drive informed decisions about the future of your target by selecting the right development approach and choosing the best technology platform. Our popular ALMS1 analysis services include but not limited to the following:
If you are interested in our services,
| Cat | Service |
| BAS87-1 | ALMS1 Knockdown Assay |
| BAS87-2 | ALMS1 Protein Analysis |
| BAS87-3 | ALMS1 mRNA Analysis |
| BAS87-4 | MS & Bioinformatic Analysis |
| BAS87-5 | Cell Cycle Assay |
| BAS87-6 | Apoptosis Assay |
| BAS87-7 | Mitochondrial Activity Assay |
| BAS87-8 | ALMS1 PTM Analysis |
| BAS87-9 | ALMS1 Mutation Analysis |
please contact us for more information.
For Research Use Only.
