Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

MODY6 diabetes
NEUROD1

References:

1.

Fajans SS et al. (2001) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.

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2.

Malecki MT et al. (1999) Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.

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3.

Orphanet article

Orphanet ID 123762 [^]
4.

NCBI article

NCBI 4760 [^]
5.

OMIM.ORG article

Omim 601724 [^]
6.

Wikipedia article

Wikipedia EN (NEUROD1) [^]
Update: April 29, 2019