Bromodomain and WD repeat-containing protein 3
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.[5][6][7]
External IDsOMIM: 300553; MGI: 3029414; HomoloGene: 18736; GeneCards: BRWD3; OMA:BRWD3 - orthologs
| BRWD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | BRWD3, BRODL, MRX93, bromodomain and WD repeat domain containing 3, XLID93 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300553; MGI: 3029414; HomoloGene: 18736; GeneCards: BRWD3; OMA:BRWD3 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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 intellectual disability or permanent paralysis X-linked type 93, which is also referred to as intellectual disability X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia.[7]
