TEL: +86 571 56623320 EMAIL: [email protected]
Product Name BRWD3 Chinese Name 智力发育调节相关蛋白BRWD3抗体 Alias BRODL; Bromo domain containing protein disrupted in leukemia; Bromodomain and WD repeat domain containing 3; Novel WD repeat domain protein; BRWD3_HUMAN. Research Area Developmental biology Neurobiology Signal transduction Apoptosis Cyclin Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Sheep, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 203kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human BRWD3: 1701-1802/1802 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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.
SWISS:
Q6RI45
Gene ID:
254065
Database links:
Scan Wechat Qrcode