Biomarker Information
Heart and Neural crest derivatives expressed transcript 1 (HAND1) is a basic helix-loop-helix (bHLH) transcription factor implicated in several developmental programs and carcinogenesis. HAND1 can form homodimers and interact with other tissue-restricted bHLH proteins, such as HAND2. Dimer partner choice infers differential regulation on twist family proteins and is regulated by phosphorylation. Protein kinase A and C can phosphorylate HAND1, while β56δ-containing protein phosphatase 2A can dephosphorylate HAND1.HAND1 is required for proper cardiac morphogenesis and is essential for extra-embryonic and trophoblast cell differentiation.
HAND1 and Disease
HMGA1 overexpression plays a key role in HAND1 silencing in differentiated thyroid carcinomas and that promoter hypermethylation occurs in later stages of thyroid tumor progression. Diseases associated with HAND1 include Hypoplastic Left Heart Syndrome and Double Outlet Right Ventricle. Functional studies with expressed HAND1 mutant proteins revealed that transcriptional activity was reduced or abolished by specific mutations. Research findings suggest sequence alterations leading to a defective protein may contribute to septation defects of the human hearts.
Services at Creative Biolabs
Creative Biolabs provides functional studies of HAND1 mutants in the yeast system to help you reveal impairment of transactivation activities. Based on studies in mammalian cells and yeast functional assays, we were able to determine a possible contribution of these mutations to the disease phenotype.
- Genomic DNA isolation, mutation analysis
- SNP analysis
- Functional analysis of HAND1 mutants
- ELISA analysis
- qPCR analysis
Fig.1 HAND1 analysis service overview.
Moreover, Creative Biolabs has also developed various anti-human HAND1 products for different applications. If you are interested in our services, please feel free to contact us for more information.
For Research Use Only.
