Ask about this productRelated genes to: Ier3ip1 antibody
- Gene:
- IER3IP1 NIH gene
- Name:
- immediate early response 3 interacting protein 1
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 18q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-01-18
- Date modifiied:
- 2016-10-05
Related products to: Ier3ip1 antibody
Related articles to: Ier3ip1 antibody
- Microcephaly, Epilepsy, and Diabetes Syndrome 1 (MEDS1) is a very rare autosomal recessive neurodevelopmental disorder (OMIM#614231) characterized by the triad microcephaly with simplified gyration, neonatal permanent diabetes and infantile epileptic encephalopathy. Its occurrence is due to biallelic mutations in the gene, which encodes for the Immediate Early Response 3 Interacting Protein 1 (IER3IP1). To date, only eleven cases have been reported worldwide. Here, we describe the twelfth case from northern Morocco. This 4-month-old patient, born to a healthy non-consanguineous couple presented with microcephaly, epileptic seizures and insulin-requiring permanent neonatal diabetes. Brain MRI revealed simplified gyration with partial agenesis of the corpus callosum. Targeted next generation sequencing identified the patient as compound heterozygous for two variants; a novel nonsense mutation, p. Leu79Ter, and a previously reported pathogenic variant, p. Val21Gly. This report extends the phenotypic and genotypic spectrum of MEDS1 syndrome and provides further evidence of the role of IER3IP1 in neural and pancreatic development, emphasizing the clinical importance of genetic screening in cases of early-onset diabetes and epilepsy especially when accompanied by significant head growth failure in a newborn infant. Further research into the pathophysiology of IER3IP1 may potentially lead to new therapeutic approaches. - Source: PubMed
Publication date: 2025/10/08
Jelti HKhabbache KBouressas SHacht FOulmaati ALamzouri A - To unveil the molecular players that maintain neural stem cell (NSC) homeostasis, we conducted a genetic screen in and isolated an uncharacterized gene that we named (). is the homologue of human , a gene associated with Microcephaly, Epilepsy, and Neonatal Diabetes Syndrome-1 (MEDS-1). We show that loss leads to early larval lethality with small brains and these phenotypes can be rescued by expressing IER3IP1 indicating that their biological function is conserved through evolution. The deficient neuroblasts fail to complete cytokinesis and show excessive accumulation of Rab11 vesicles in the cytoplasm. Similarly, depletion in human cells leads to cytokinesis failure and accumulation of Rab11 vesicles. Insep and IER3IP1 localize to Rab11 vesicles and interact with Rab11. The pathogenic mutations in IER3IP1 perturb its localization to Rab11 vesicles. These results suggest that Insep and IER3IP1 work along with Rab11 and may regulate fusion of Rab11 vesicles to the advancing furrow during cytokinesis. - Source: PubMed
Publication date: 2025/09/24
Kakade Aishwarya ArunGupta SachinJohnson AndreaVarghese ReshmiAdicherla HarikrishnaNagarkar-Jaiswal Sonal - Understanding the genetic causes of diseases that affect pancreatic β cells and neurons can give insights into pathways essential for both cell types. Microcephaly, epilepsy, and diabetes syndrome (MEDS) is a congenital disorder with two known etiological genes, IER3IP1 and YIPF5. Both genes encode proteins involved in endoplasmic reticulum (ER) to Golgi trafficking. We used genome sequencing to identify 6 individuals with MEDS caused by biallelic variants in the potentially novel disease gene TMEM167A. All had neonatal diabetes (diagnosed at <6 months) and severe microcephaly, and 5 also had epilepsy. TMEM167A is highly expressed in developing and adult human pancreas and brain. To gain insights into the mechanisms leading to diabetes, we silenced TMEM167A in EndoC-βH1 cells and knocked-in one patient's variant, p.Val59Glu, in induced pluripotent stem cells (iPSCs). Both TMEM167A depletion in EndoC-βH1 cells and the p.Val59Glu variant in iPSC-derived β cells sensitized β cells to ER stress. The p.Val59Glu variant impaired proinsulin trafficking to the Golgi and induced iPSC-β cell dysfunction. The discovery of TMEM167A variants as a genetic cause of MEDS highlights a critical role of TMEM167A in the ER to Golgi pathway in β cells and neurons. - Source: PubMed
Publication date: 2025/09/09
Virgilio EnricoTielens SylviaBonfield GeorgiaNian Fang-ShinSawatani ToshiakiVinci ChiaraGovier MollyMontaser HossamLartigue RomaneArunagiri AnoopLiboz AlexandrineDa Silva Flavia NatividadeLytrivi MariaPapadopoulou TheodoraWakeling Matthew NRuss-Silsby JamesBowman PamelaJohnson Matthew BLaver Thomas WPiron AnthonyYi XiaoyanFantuzzi FedericaHendrickx SirineIgoillo-Esteve MarianaSantacreu Bruno JSuntharesan JananieGhildiyal RadhaHegde DarshanShah NikhilAcar SezerDönmez Beyhan ÖzkayaÖzkan BehzatMohsin FauziaTalaat Iman MAbbas Mohamed TarekAbbas Omar TarekAlghamdi Hamed AliKandemir NurgunFlanagan Sarah EScharfmann RaphaelArvan PeterRaoux MatthieuNguyen LaurentHattersley Andrew TCnop MiriamDe Franco Elisa - - Source: PubMed
Feng WenliArvan PeterLiu Ming - - Source: PubMed
Publication date: 2024/11/27
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