General Information:

Id: 13,888 (click here to show other Interactions for entry)
Diseases: MODY - [OMIM]
Homo sapiens
review
Reference: Nkonge KM et al.(2020) The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY) Clin Diabetes Endocrinol 6: 20 [PMID: 33292863]

Interaction Information:

Comment The paired box gene 4 (PAX4) protein is a nuclear transcription factor that regulates beta cell differentiation and represses the activity of INS and glucagon promoters. Heterozygous mutations in the PAX4 gene cause abnormal beta cell development and lead to beta cell dysfunction and impaired glucose-stimulated insulin secretion. PAX4-MODY (MODY subtype 9) is characterized by ketosis-prone diabetes mellitus.
Formal Description
Interaction-ID: 131160

gene/protein

PAX4

affects_activity of

disease

MODY, type IX

Comment The paired box gene 4 (PAX4) protein is a nuclear transcription factor that regulates beta cell differentiation and represses the activity of INS and glucagon promoters. Heterozygous mutations in the PAX4 gene cause abnormal beta cell development and lead to beta cell dysfunction and impaired glucose-stimulated insulin secretion. PAX4-MODY (MODY subtype 9) is characterized by ketosis-prone diabetes mellitus.
Formal Description
Interaction-ID: 131165