BRWD3 gene

From NCBI Gene:

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 cause mental retardation 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. [provided by RefSeq, May 2010]

From UniProt:

Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

From NCBI Gene:

• Mental retardation, X-linked 93

From UniProt:

Mental retardation, X-linked 93 (MRX93): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX93 is associated with macrocephaly. [MIM:300659]

A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes.

Cytogenetic Location: Xq21.1, which is the long (q) arm of the X chromosome at position 21.1

Molecular Location: base pairs 80,669,488 to 80,809,736 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

• BRODL
• MRX93