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:
Related Diseases:
References:
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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
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5. |
NCBI article
NCBI 5078
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6. |
OMIM.ORG article
Omim 167413
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7. |
Wikipedia article
Wikipedia EN (PAX4)
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Update: Aug. 14, 2020