Transactivator NEUROD1
The gene product of NEUROD1 plays a role as a transcription factor in insulin secretion of beta cells by binding to its promotor's E-box. Mutations cause autosomal dominant diabetes MODY6.
Genetests:
Related Diseases:
References:
1. |
Fajans SS et al. (2001) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.
|
2. |
Malecki MT et al. (1999) Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.
|
3. |
Orphanet article
Orphanet ID 123762
|
4. |
NCBI article
NCBI 4760
|
5. |
OMIM.ORG article
Omim 601724
|
6. |
Wikipedia article
Wikipedia EN (NEUROD1)
|
Update: Aug. 14, 2020