This Antibody was verified by KnockDown to ensure that the antibody binds to the antigen stated. View Details
Immunogen sequence: AAWAEYEAEK KGLTMRFNIP TGTNLPPVSF NSQTPYIPFN LGALSAMSNQ QLEDLINQGR EKVVEATNSV TAVRIQPLED IISAVWKENM NLSEAQVQAL ALSRQASQEL DVKRREAIYN DVLTKQQMLI SCVQRILMNR R
Highest antigen sequence identity to the following orthologs: Mouse - 96%, Rat - 97%.
The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) 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. 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog; alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae); ATP-dependent helicase ATRX; ATR2; DNA dependent ATPase and helicase; helicase 2; helicase 2, X-linked; JMS; mental retardation, X-linked 52; MRXHF1; RAD54; RAD54L; RP5-875J14.1; S. cerevisiae); SFM1; SHS; Transcriptional regulator ATRX; X-linked; X-linked helicase II; X-linked nuclear protein; XH2; XNP; Zinc finger helicase; ZNF-HX
Gene Aliases: ATR2; ATRX; JMS; MRX52; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
UniProt ID: (Human) P46100
Entrez Gene ID: (Human) 546