Gene: CUL4B

Alternate names for this Gene: CUL-4B|MRXHF2|MRXS15|MRXSC|SFM2

Gene Summary: This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq24

Description of this Gene: cullin 4B

Type of Gene: protein-coding

rs1260356990 in CUL4B gene and Dysmorphic features PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.

PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

PMID 17236139 2007 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.

PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.

PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

rs763692058 in CUL4B gene and MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

PMID 17236139 2007 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

rs1556213001 in CUL4B gene and Movement Disorders PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.

PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.

PMID 17236139 2007 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.

PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

rs1556200443 in CUL4B gene and Muscle hypotonia PMID 17236139 2007 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.

PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.

PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

rs1556220623 in CUL4B gene and Overgrowth PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.

PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

PMID 17236139 2007 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.

PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.