Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transcriptionfactor PAX4

The gene PAX4 encodes a transcription factor that plays an important role in development of pancreatic islets and the regulation of insulin secretion. Mutations cause type 2 diabetes with susceptibility to ketone acidosis and autosomal dominant MODY9 diabetes.

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:

MODY9 diabetes
PAX4

References:

1.

Shimajiri Y et al. (2001) A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.

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2.

Plengvidhya N et al. (2007) PAX4 mutations in Thais with maturity onset diabetes of the young.

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3.

Mauvais-Jarvis F et al. (2004) PAX4 gene variations predispose to ketosis-prone diabetes.

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4.

Orphanet article

Orphanet ID 201085 [^]
5.

NCBI article

NCBI 5078 [^]
6.

OMIM.ORG article

Omim 167413 [^]
7.

Wikipedia article

Wikipedia EN (PAX4) [^]
Update: April 29, 2019