CIDeRplusGeneral Information:
| Id: | 2,993 (click here to show other Interactions for entry) |
| Diseases: |
Diabetes mellitus, type II
- [OMIM]
Insulin resistance MODY, type IX - [OMIM] |
| Homo sapiens | |
| male | |
| Japanese | |
| article | |
| Reference: | Jo W et al.(2011) A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young Tohoku J. Exp. Med. 223: 113-118 [PMID: 21263211] |
Interaction Information:
| Comment | Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous type of diabetes mellitus, characterized by early onset (often before 25 years of age) and absence of pancreatic autoimmunity markers. Paired-homeodomain transcription factor 4 (PAX4) functions as a transcriptional repressor and is involved in the differentiation of insulin-secreting beta-cells. A 15-year-old, non-obese boy was admitted to hospital because of polyuria and polydipsia. Laboratory evaluation showed an elevated fasting glucose level; however, islet cell antibodies and glutamic acid decarboxylase antibodies were not detected in the patient's serum. The proband's father had been diagnosed as having type 2 diabetes at age of 30 years. A novel mutation of a 39-base heterozygous deletion in exon 3 (c.374-412 del39) of PAX4 was identified in the proband and his father. This mutation may cause exon 3 skipping that results in a frameshift, thereby producing a premature stop codon in exon 5. Mutant PAX4 could not repress the activities of insulin and glucagon gene promoters, unlike the wild-type PAX4 that repressed the promoter activities. |
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Formal Description Interaction-ID: 27245 |
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