Ask about this productRelated genes to: Ighmbp2 antibody
- Gene:
- IGHMBP2 NIH gene
- Name:
- immunoglobulin mu DNA binding protein 2
- Previous symbol:
- -
- Synonyms:
- ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6, CMT2S
- Chromosome:
- 11q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-12-15
- Date modifiied:
- 2019-04-23
Related products to: Ighmbp2 antibody
Related articles to: Ighmbp2 antibody
- Charcot-Marie-Tooth disease (CMT) is a group of common monogenic peripheral neuropathies listed in the first National Rare Disease Catalog of China and is characterized by marked clinical and genetic heterogeneity. Immunoglobulin μ-binding protein 2 (IGHMBP2) is a ubiquitously expressed nucleic acid helicase, and mutations in the gene can cause autosomal recessive CMT type 2S (AR-CMT2S). However, the underlying pathogenic mechanisms remain unclear. This study aims to generate induced pluripotent stem cells (iPSCs) derived from peripheral blood mononuclear cells (PBMCs) of a patient with AR-CMT2S caused by mutations (c.884A>G and c.791G>A), thereby providing a novel cellular model for mechanistic studies and stem cell-based therapeutic research. - Source: PubMed
Liu LeiXu KeZeng SenXie YongzhiZhang RuxuHu Zhongyang - Mutations in the Immunoglobulin Mu DNA Binding Protein 2 (IGHMBP2) gene cause Spinal Muscular Atrophy with Respiratory Distress type 1 (SMARD1), a rare, infantile, and fatal motor neuron disease, as well as the milder Charcot-Marie-Tooth disease type 2S (CMT2S). Gene therapy has emerged as a promising approach to correcting IGHMBP2 loss in SMARD1 models, but critical challenges remain. - Source: PubMed
Publication date: 2026/01/04
Pagliari ElisaAnastasia AlessiaBellandi FlorianaGarbellini ManuelaOngaro JessicaTaiana MichelaComi Giacomo POttoboni LindaSierra-Delgado Julieth AndreaLikhite ShibiMeyer Kathrin CNizzardo MonicaCorti Stefania P - IGHMBP2-related disorders comprise a clinical spectrum from spinal muscular atrophy with respiratory distress type 1 (SMARD1) to Charcot-Marie-Tooth disease type 2S, with increasingly recognized atypical and overlapping phenotypes. We report four pediatric cases from three unrelated families with biallelic pathogenic variants in IGHMBP2. Case 1, a premature infant represents SMARD1. Case 2 had infantile-onset neuropathy without respiratory symptoms. Case 3 and 4, two siblings, presented with a Guillain-Barré syndrome-like phenotype, cauda equina enhancement on spinal neuroimaging, elevated cerebrospinal fluid protein, and electromyography revealing acute motor and sensory axonal neuropathy. Despite an initial response to intravenous immunoglobulin, previous symptoms in Case 3 led to consideration of an immune-mediated neuropathy superimposed on a genetic background. Genetic analysis identified a homozygous nonsense variant in Cases 1 and 2, and novel compound heterozygous missense variants in Case 3 and 4. Thus, the list of overlapping genetic and acquired neuropathies now also includes IGHMBP2-related CMT2S. - Source: PubMed
Publication date: 2025/12/16
Bektaş HaticeŞener NagihanBilgin NeslihanÜrel Demir GizemÖncel İbrahimÖztoprak ÜlkühanTemuçin Çağrı MesutŞimşek Kiper Pelin ÖzlemUtine Gülen EdaHaliloğlu Göknur - Genetic peripheral neuropathies have prevalence of 1:2500-1:10,000 in populations of European ancestry but are underreported in African populations. This retrospective cross-sectional study described 64 children with genetic peripheral neuropathy attending a neuromuscular disease centre in South Africa. Twenty-one children (21/64, 33 %) had confirmed molecular diagnoses, and 43/64 (67 %) were diagnosed via histology and neurophysiology. In seven children, next generation sequencing did not identify a causative variant. The identified genetic causes were PMP22 duplications (n = 11), and variants in ATL1 (n=1), IGHMBP2 (n = 2), MPZ (n = 1), MFN2 (n = 1), MTMR2 (n = 2), SH3TC2 (n = 1), SLC12A6 (n = 1), and SLC52A3 (n = 1). Axonal neuropathy was most common (47/64, 73 %), affecting 9/12 children with African, 17/26 Mixed, and 21/26 European ancestry. Only two of the 11 children with PMP22 duplication were of Indigenous Black African ancestry. Access to genetic closure for children in sub-Saharan Africa remains a challenge due limited access to genetic testing. In this study there was a predominance of unsolved axonal diseases. PMP22-related CMT1A, appeared rare in children of Indigenous Black African ancestry. More research is needed to elucidate the genetic underpinnings of neuropathies in Africa, for informed and relevant genetic and clinical diagnostic protocols for local patients. - Source: PubMed
Publication date: 2025/11/22
Raga Sharika VKandawasvika Gwendoline QNdondo AlvinHanna Michael GReilly Mary MRecord Christopher JKrause AmandaEssop FahmidaEsterhuizen AlinaWilmshurst Jo M - Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot Marie Tooth type 2S (CMT2S) are due to mutations in immunoglobulin mu binding protein two (IGHMBP2). We generated the Ighmbp2-R604X mouse (R605X-humans) to understand how alterations in IGHMBP2 function impact disease pathology. The IGHMBP2-R605X mutation is associated with patients with SMARD1 or CMT2S. The impact of this mutation is substantial, Ighmbp2 mice have a decreased lifespan (6 days) and weight, and failure to thrive consistent with SMARD1 symptoms. Significant respiratory changes were present along with disease pathology of the phrenic nerve and diaphragm muscle fibers. Ighmbp2 mice also presented with signs of milk aspiration and lung pathology. Interestingly, P0 Ighmbp2 mice had visible milk spots, but demonstrated reduction of the milk spot by P3, indicating deficits in suckling. Alterations in hindlimb electrophysiology were consistent with the pathology of the sciatic nerve, hindlimb neuromuscular junction and muscle. Injection of the ssAAV9-WT-IGHMBP2 vector extended Ighmbp2 survival a few days. Ighmbp2 phenotypes are consistent with the most severe SMARD1 clinical symptoms and for the first time a Ighmbp2 mouse model demonstrates that milk aspiration and loss of the ability to suckle impact survival. - Source: PubMed
Publication date: 2025/11/21
Torres F Javier LlorenteMuchow RoxanneWoolridge MichellePerez-Lopez DennisSmith Catherine LYeddula Sai Goutham ReddyDavis DanielCornelison D D WArnold W DavidNichols Nicole LLorson Christian LLorson Monique A