ArticleJournal of human genetics2004
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.
Article in Journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Inositol pyrophosphate kinases in health and disease.FEBS letters · 2026Review
- Targeting the Inositol Pyrophosphate Biosynthetic Enzymes in Metabolic Diseases.Molecules (Basel, Switzerland) · 2020Review
- Monitoring Phytate Hydrolysis Using Serial Blood Sampling and Feather Myo-Inositol Levels in Broilers.Frontiers in physiology · 2020Article
- Inositol hexakisphosphate kinase 1 is a metabolic sensor in pancreatic β-cells.Cellular signalling · 2018Article
- The inositol pyrophosphate pathway in health and diseases.Biological reviews of the Cambridge Philosophical Society · 2018Review
- TNP [N2-(m-Trifluorobenzyl), N6-(p-nitrobenzyl)purine] ameliorates diet induced obesity and insulin resistance via inhibition of the IP6K1 pathway.Molecular metabolism · 2016Article
- Convergence of IPMK and LKB1-AMPK signaling pathways on metformin action.Molecular endocrinology (Baltimore, Md.) · 2014Article
- Chemical pyrophosphorylation of functionally diverse peptides.Journal of the American Chemical Society · 2014Article
- The enzymes of human diphosphoinositol polyphosphate metabolism.The FEBS journal · 2014Review
- Identification of cellular proteins that interact with human cytomegalovirus immediate-early protein 1 by protein array assay.Viruses · 2013Article
- Article
- Roles of inositol phosphates and inositol pyrophosphates in development, cell signaling and nuclear processes.Advances in enzyme regulation · 2010Review
- Zebrafish inositol polyphosphate kinases: new effectors of cilia and developmental signaling.Advances in enzyme regulation · 2010Review
- MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.Molecular cytogenetics · 2009Article
- Gene deletion of inositol hexakisphosphate kinase 1 reveals inositol pyrophosphate regulation of insulin secretion, growth, and spermiogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
Corrections and comments
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Authors and funding
16 authors.
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Abstract
Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal translocation, t(3;9)(p21.31;q33.1). To isolate a candidate gene susceptible to T2DM, we constructed physical maps covering both the 3p and 9q breakpoints of the translocation in the family. Consequently, the inositol hexaphosphate kinase 1 gene ( IHPK1) (OMIM *606991) was found to be disrupted at the 3p21.31 breakpoint. We then carried out sequence analysis for all coding regions of IHPK1 in 405 unrelated T2DM patients in order to validate whether aberrations of the gene are common in T2DM patients, but we failed to detect any pathogenic changes. The disruption of IHPK1 or another predisposing gene affected by position effect of the translocation may explain the T2DM phenotype at least in this family. Alternatively, the IHPK1 disruption in the family is a chance association.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.