biostudies-literatureWohlschlegel JFoundation Fighting Blindness grantAgence Nationale de la RechercheIHU FOReSIGHTRetina FranceUNADEVFondation de FranceLABEX LIFESENSES17210https://www.ebi.ac.uk/biostudies/studies/S-EPMC8390696biostudies-literatureUnknown11(1)Integral Membrane Protein 2 B (ITM2B) is a type II ubiquitous transmembrane protein which role remains unclear. ITM2B mutations have been associated with different disorders: mutations leading to longer mutant proteins have been reported in two distinct Alzheimer-like autosomal dominant disorders with early-onset progressive dementia and cerebellar ataxia. Both disorders share neurological features including severe cerebral amyloid angiopathy, non-neuritic plaques, and fibrillary tangles as in Alzheimer disease. Our group reported a missense mutation in ITM2B, in an unusual retinal dystrophy with no dementia. This finding suggests a specific role of ITM2B in the retina. As the identification of retinal-specific ITM2B partners could bring new insights into the cellular functions of ITM2B, wScientific reportsFirst identification of ITM2B interactome in the human retina.PMC8390696ANR-10-LABX-65ANR-11-IDEX-0004-0[BR-GE-0619-0761-INSERM]ANR-18-IAHU-0001Thuret GLeger TAudo IArgentini MForster VCondroyer CMichiels CLetellier CHe ZWohlschlegel JZeitz CfalseFirst identification of ITM2B interactome in the human retina.Integral Membrane Protein 2 B (ITM2B) is a type II ubiquitous transmembrane protein which role remains unclear. ITM2B mutations have been associated with different disorders: mutations leading to longer mutant proteins have been reported in two distinct Alzheimer-like autosomal dominant disorders with early-onset progressive dementia and cerebellar ataxia. Both disorders share neurological features including severe cerebral amyloid angiopathy, non-neuritic plaques, and fibrillary tangles as in Alzheimer disease. Our group reported a missense mutation in ITM2B, in an unusual retinal dystrophy with no dementia. This finding suggests a specific role of ITM2B in the retina. As the identification of retinal-specific ITM2B partners could bring new insights into the cellular functions of ITM2B, w2021-01-01T00:00:00Z2021 Aug2026-05-08T00:39:53.376Z2022-02-11T10:08:54.006ZS-EPMC83906963444678110.1038/s41598-021-96571-6