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Article

Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

American journal of human genetics - 1 Mar 2007

Zou Yongxin, Liu Qiji, Chen Bingxi, Zhang Xiyu, Guo Chenhong, Zhou Haibin, Li Jiangxia, Gao Guimin, Guo Yishou, Yan Chuanzhu, Wei Jianjun, Shao Changshun, Gong Yaoqin

Abstract excerpt

We reevaluated a previously reported family with an X-linked mental retardation syndrome and attempted to identify the underlying genetic defect. Screening of candidate genes in a 10-Mb region on Xq25 implicated CUL4B as the causative gene. CUL4B encodes a scaffold protein that organizes a cullin-RING (really interesting new gene) ubiquitin ligase (E3) complex in ubiquitylation. A base substitution, c.1564C-->T,...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

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Share to Dosage Compensation, Genetic

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Identifiers

PMID: 17273978
DOI: 10.1086/512489
PMCID: PMC1821105

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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