Bromodomain and WD repeat-containing protein 3
Bromodomain and WD repeat-containing protein 3 (BRWD3) is a protein that in humans is encoded by the BRWD3 gene. It is located on the X chromosome and is known to play a crucial role in cell division and growth.
Function[edit | edit source]
The BRWD3 gene provides instructions for making a protein that is involved in the regulation of gene expression, which is the process by which information from a gene is used in the synthesis of a functional gene product. The BRWD3 protein is thought to play a role in the organization of chromatin, a substance found in cells that helps control gene activity (gene expression).
Clinical significance[edit | edit source]
Mutations in the BRWD3 gene are associated with mental retardation, X-linked, syndromic, Nascimento type (MRXSN). This is a condition characterized by significantly below-average overall intellectual function accompanied by considerable deficits in adaptive behavior.
Genetics[edit | edit source]
The BRWD3 gene is located on the long (q) arm of the X chromosome at position 26.1. More precisely, the BRWD3 gene is located from base pair 134,957,992 to base pair 135,465,448 on the X chromosome.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD