其他名称： BRWD3; Bromodomain and WD repeat-containing protein 3
实测条带： 204kD
功能： caution:The translocation involving this gene was originally published as t(X;11)(q13;23) (PubMed:15543602), but BRWD3 is localized to Xq21 and not to Xq13.,developmental stage:Expressed in fetal liver.,disease: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.,disease: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.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 2 bromo domains.,similarity:Contains 9 WD repeats.,tissue specificity:Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： nucleus,
组织表达： Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.
科研货号： PLA014955
BRWD3 Polyclonal Antibody
Catalog NoPLA014955
Product information
基因名称： BRWD3
蛋白名称： Bromodomain and WD repeat-containing protein 3
其他名称： BRWD3; Bromodomain and WD repeat-containing protein 3
实测条带： 204kD
功能： caution:The translocation involving this gene was originally published as t(X;11)(q13;23) (PubMed:15543602), but BRWD3 is localized to Xq21 and not to Xq13.,developmental stage:Expressed in fetal liver.,disease: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.,disease: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.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 2 bromo domains.,similarity:Contains 9 WD repeats.,tissue specificity:Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： nucleus,
组织表达： Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.
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