ArticleAmerican journal of human genetics2006
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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54 citing papers in PubMed, 112 citations in OpenAlex.
- Molecular mechanisms in rare proteasomopathies.EULAR rheumatology open · 2026Review
- Function and regulation of the mitochondrial stress response.Nature structural & molecular biology · 2026Review
- The Ubiquitin-Proteasome System in Brain Disorders: Pathogenic Pathways, Post-Translational Tweaks, and Therapeutic Frontiers.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2025Review
- The ribosome ubiquitination code: fine-tuning translation under stress.Trends in biochemical sciences · 2025Review
- [A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of theZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
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- Multi-omics integration identifies molecular markers and biological pathways for carcass and meat quality traits in Nellore cattle.Scientific reports · 2025Article
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- Ubiquitin system mutations in neurological diseases.Trends in biochemical sciences · 2024Review
- Bayesian estimation of gene constraint from an evolutionary model with gene features.Nature genetics · 2024Article
- Bayesian estimation of gene constraint from an evolutionary model with gene features.bioRxiv : the preprint server for biology · 2024Article
- A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.European journal of pediatrics · 2024Article
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- UBE2A and UBE2B are recruited by an atypical E3 ligase module in UBR4.Nature structural & molecular biology · 2024Article
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- UBE2C serves as a prognosis biomarker of uterine corpus endometrial carcinoma via promoting tumor migration and invasion.Scientific reports · 2023Article
- A novel UBE2A splice site variant causing intellectual disability type Nascimento.Clinical case reports · 2022Article
- Redox-sensitive E2 Rad6 controls cellular response to oxidative stress via K63-linked ubiquitination of ribosomes.Cell reports · 2022Article
- The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.Brain sciences · 2021Review
- Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a mutation of UBE2A/HR6A, which encodes a ubiquitin-conjugating enzyme (E2), a member of the ubiquitin proteasome pathway, as the cause of a novel X-linked mental retardation (XLMR) syndrome that affects three males in a two-generation family. A single-nucleotide substitution, c.382C-->T in UBE2A, led to a premature UAG stop codon (Q128X). As a consequence, the predicted polypeptide lacks the 25 C-terminal amino acid residues. The importance of this terminal sequence for UBE2 function is inferred by its conservation in vertebrates and in Drosophila. UBE2A mutations do not appear to significantly contribute to XLMR, since no UBE2A mutations were identified in 15 families with nonsyndromic and 4 families with syndromic idiopathic XLMR previously mapped to intervals encompassing this gene. This is the first description of a mutation in a ubiquitin-conjugating enzyme gene as the cause of a human disease.
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