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Protein-coding gene in humans
Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene .[ 5] [ 6] [ 7]
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 .[ 7]
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 .[ 7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000165288 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063663 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . S2CID 29497580 . ^ 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. Bibcode :2005Natur.436..871M . doi :10.1038/nature03869 . hdl :11858/00-001M-0000-0012-E868-C PMID 16094372 . S2CID 4429398 . ^ a b c "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3" .
External links
Further reading
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
