Bromodomain and WD repeat-containing protein 3

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	Wikidata
View/Edit Human

Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.^[1]^[2]^[3]

Function

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription.^[3]

Clinical significance

Mutations in this gene can cause mental retardation or permanent paralysis X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia.^[3]

References

↑ Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dohner H, Stilgenbauer S, Lichter P (Dec 2004). "Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes". Genes Chromosomes Cancer. 42 (2): 128–43. doi:10.1002/gcc.20131. PMID 15543602.
↑ Muller P, Kuttenkeuler D, Gesellchen V, Zeidler MP, Boutros M (Aug 2005). "Identification of JAK/STAT signalling components by genome-wide RNA interference". Nature. 436 (7052): 871–5. doi:10.1038/nature03869. PMID 16094372.
↑ ^3.0 ^3.1 ^3.2 "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3".

External links

Human BRWD3 genome location and BRWD3 gene details page in the UCSC Genome Browser.

Field M, Tarpey PS, Smith R, et al. (2007). "Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly". Am. J. Hum. Genet. 81 (2): 367–74. doi:10.1086/520677. PMC 1950797. PMID 17668385.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

[pmid15543602-1] Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dohner H, Stilgenbauer S, Lichter P (Dec 2004). "Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes". Genes Chromosomes Cancer. 42 (2): 128–43. doi:10.1002/gcc.20131. PMID 15543602.

[pmid16094372-2] Muller P, Kuttenkeuler D, Gesellchen V, Zeidler MP, Boutros M (Aug 2005). "Identification of JAK/STAT signalling components by genome-wide RNA interference". Nature. 436 (7052): 871–5. doi:10.1038/nature03869. PMID 16094372.

[entrez-3] 3.0 ^3.1 ^3.2 "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3".

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[2]

[3]

Bromodomain and WD repeat-containing protein 3

Contents

Function

Clinical significance

References

External links

Further reading

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