Gene: BRWD3

Alternate names for this Gene: BRODL|MRX93

Gene Summary: 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. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia.

Gene is located in Chromosome: X

Location in Chromosome : Xq21.1

Description of this Gene: bromodomain and WD repeat domain containing 3

Type of Gene: protein-coding

rs28417201 in BRWD3 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs137853272 in BRWD3 gene and MENTAL RETARDATION, X-LINKED 93 (disorder) PMID 17668385 2007 Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.