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 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. [provided by RefSeq, Jul 2017]

From UniProt:

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 109, GRCh38.p12) (NCBI)

• BRODL
• MRX93