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Rabbit Anti-BRWD3/FITC Conjugated antibody
background:
Members of the WD repeat protein family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis and gene regulation. BRWD3 (bromodomain and WD repeat-containing protein 3) is a 1,802 amino acid protein expressed in fetal liver and most adult tissues. Existing as five alternatively spliced isoforms, BRWD3 contains two bromo domains, nine WD repeats and is thought to play a role in transcription by modifying chromatin. Mutations in the gene encoding BRWD3 are the cause of mental retardation X-linked type 93 (MRX93), which is also known as mental retardation X-linked with macrocephaly (XLMR). MRX93 is characterized by mild intellectual disability, macrocephaly, a prominent forehead and large cupped ears.
Function:
BRWD3 is found in most adult tissues. A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B-CLL). Defects in BRWD3 are the cause of mental retardation X-linked type 93.
Tissue Specificity:
Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Note=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.
Defects in BRWD3 are the cause of mental retardation X-linked type 93 (MRX93) [MIM:300659]; also known as mental retardation X-linked with macrocephaly. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Mentally retarded individuals are at least twice as likely to have macrocephaly than are their intellectually normal peers.
Similarity:
Contains 2 bromo domains.
Contains 9 WD repeats.
Database links:
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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