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- Table of Contents
Facts about Cullin-4B.
CUL4B may act within the complex as a scaffold protein, leading to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of CDT1, histone H2A, histone H3 and histone H4 in response to radiation- induced DNA damage.
Human | |
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Gene Name: | CUL4B |
Uniprot: | Q13620 |
Entrez: | 8450 |
Belongs to: |
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cullin family |
CUL-4B; cullin 4B; cullin-4B; DKFZp686F1470; KIAA0695; MRXHF2; MRXS15; MRXSC; SFM2
Mass (kDA):
103.982 kDA
Human | |
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Location: | Xq24 |
Sequence: | X; NC_000023.11 (120523858..120575829, complement) |
Nucleus.
Steven Boster from California, a man with an Xlinked intellectual impairment, is one the most well-known examples of genetic disease. What is this gene and should we be concerned about it? Here are some details about Steven Boster and the Xlinked genetic disorder Cabezas Syndrome. This informative article will help you to understand the gene and how it can be beneficial for your research.
Genetic testing for X-linked intellectual disability has uncovered a link between the CUL4B marker and the Cabezas type of MRXSC. The CUL4B gene regulates bone-morphogenetic protein signaling. KAISO variants may also be associated. This is not the end. More research is needed to determine the relationship between the CUL4B mark and Xlinked intellectual disability.
The discovery of the CUL4B gene was made possible by a 28-kb deletion in the X chromosome. Researchers were able locate the breakpoint within CUL4B’s intron 4, approximately 1,000 bp downstream the gene’s 3-prime TTR. Moreover, Ravn et al. confirmed the carrier status of the disease with a family history of the disorder.
CUL4B, a gene located on theX chromosome, encodes the protein that is localized at the nucleus. CUL4B is expressed in increased levels in colorectal and lung cancers. It also promotes osteosarcoma-related cell proliferation. It has also been associated with the Wnt/b/catenin pathway, which controls gene expression.
The siRNA CUL4B mutant mice showed an increase in N-cadherin and E-cadherin. However, siRNA-NC showed no significant differences in EMT markers. The study also revealed that CUL4B mutations in mice are not linked to intellectual disability. CUL4B is implicated in schizophrenia and other genetic disorders.
Pathogenic variants of more than 100 genes are responsible for ID's genetic abnormalities. XLID (the most common type) is found in males. It accounts for between 5%-10% all IDs. Cabezas is a syndromic, XLID characterised by ID, hypogonadismsm, speech delay, and unusual facial features. A pathogenic variant in the CUL4B gene, located on chromosome X:120523858-120560962, has been associated with Cabezas syndrome.
Although the cause of Cabezas syndrome remains unknown, genetic testing has allowed for the identification of many Cabezas patients. Researchers discovered that the CUL4B gene mutation is responsible for the condition. Mutations in this gene have been linked to seizures, central obesity and pes cavus. Genetic testing can be useful but it can be inaccurate in diagnosing a condition and predicting symptoms.
PMID: 14578910 by Higa L.A., et al. Radiation-mediated proteolysis of CDT1 by CUL4-ROC1 and CSN complexes constitutes a new checkpoint.
PMID: 8681378 by Kipreos E.T., et al. cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family.