Ask about this productRelated genes to: MTMR2 antibody
- Gene:
- MTMR2 NIH gene
- Name:
- myotubularin related protein 2
- Previous symbol:
- CMT4B
- Synonyms:
- KIAA1073
- Chromosome:
- 11q21
- Locus Type:
- gene with protein product
- Date approved:
- 1999-02-05
- Date modifiied:
- 2019-04-23
Related products to: MTMR2 antibody
Related articles to: MTMR2 antibody
- 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 - To identify the genetic landscape of CMT in Saudi Arabia. - Source: PubMed
Alhazmi Aiman SAlhareeri Areej AAlhawas Ali SJameel Essam WAleisa Faisal SAlqahtani Muteb MAlmughni Mutrik JAlmuqbil Mohammed A
- Source: PubMed
- Lipid metabolism reprogramming was a key adaptive mechanism for rapid proliferation of tumor cells. It affected tumor progression by altering the expression of lipid metabolism related genes (LMRGs). The aim of this study was to identify novel LMRGs-related prognostic biomarkers and therapeutic targets for glioblastoma multiforme (GBM). - Source: PubMed
Publication date: 2025/11/05
Li Peng-ChengChen Hua-XuanYun De-BoHuang Qian-Yi - Oncogenic fusions of with , , , and retain the transactivating domain (TAD) and are believed to drive aberrant gene transcription. While the oncogenic roles of these known fusions have been established, we aimed to identify novel fusions across a range of human malignancies. - Source: PubMed
Publication date: 2025/09/27
Komiya TakefumiSweeney KieranHuang Chao HCrymes AnthonyAntonarakis Emmanuel SElliott AndrewOberley Matthew JEvans Mark G