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Bromodomain and WD repeat-containing protein 3

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BRWD3
Identifiers
AliasesBRWD3, BRODL, MRX93, bromodomain and WD repeat domain containing 3, XLID93
External IDsOMIM: 300553; MGI: 3029414; HomoloGene: 18736; GeneCards: BRWD3; OMA:BRWD3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

254065

382236

Ensembl

ENSG00000165288

ENSMUSG00000063663

UniProt

Q6RI45

A2AHJ4

RefSeq (mRNA)

NM_153252

NM_001081477

RefSeq (protein)

NP_694984

NP_001074946

Location (UCSC)Chr X: 80.67 – 80.81 MbChr X: 107.78 – 107.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.[5][6][7]

Function

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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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165288 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063663 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b c "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3".
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Further reading

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


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