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Cat No | BSPA-1130 |
Conjugate | |
Type | Polyclonal Antibody |
Source | Rabbit |
Size | 1 mg |
Application | ELISA; IHC |
Format | Liquid |
Concentration | Please refer to the vial lable for the specific concentration. |
Buffer | Supplied in PBS. |
Species | Human |
Storage | Store at -20 degree. Avoid repeted freeze/thaw cycl. |
Synonyms | ATRX;JMS;SHS;XH2;XNP;ATR2;SFM1;MRX52;RAD54;MRXHF1;RAD54L;ZNF-HX |
Purification | |
Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
MolecularWeight | |
Description | |
Background | The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation syndrome most often accompanied by alpha-thalassemia syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. |