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CUL4B cullin 4B

Also known as: SFM2; MRXSC; CUL-4B; MRXHF2; MRXS15

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. [provided by RefSeq, Jul 2008]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-03)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-03)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xq24
Sequence:
Chromosome: X; NC_000023.11 (120524589..120575829, complement)
Total number of exons:
26

Links

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