ATRX Antibody – Mouse Monoclonal

ATRX: a global transcriptional regulator. Belongs to the SNF2 family of proteins, many of which modify gene expression via chromatin remodeling activity. Involved in the developmental silencing of imprinted genes in the brain. Contains one PxVxL motif, which is required for interaction with chromoshadow domains. This motif requires additional residues at -7, -6, +4 and +5 relative to the central V which contact the chromoshadow domain. Constitutive mutations in ATRX are associated with brain, facial, and genital abnormalities, and alpha thalassemia. Acquired mutations in ATRX have been observed in preleukemic conditions. Six alternatively spliced human isoforms have been described.

Protein type: DNA repair, damage; Ubiquitin conjugating system; EC 3.6.4.12; Helicase

Chromosomal Location of Human Ortholog: Xq21.1

Cellular Component: nucleoplasm; PML body; nuclear heterochromatin; nucleus

Molecular Function: protein binding; DNA helicase activity; DNA binding; histone binding; zinc ion binding; chromatin binding; helicase activity; DNA translocase activity; methylated histone residue binding; ATP binding

Biological Process: transcription, DNA-dependent; DNA damage response, signal transduction by p53 class mediator; positive regulation of telomere maintenance; DNA repair; Sertoli cell development; DNA duplex unwinding; replication fork processing; DNA recombination; chromatin remodeling; nucleosome assembly; DNA replication-independent nucleosome assembly; regulation of transcription, DNA-dependent; forebrain development; DNA methylation; spermatogenesis; positive regulation of transcription from RNA polymerase II promoter

Disease: Alpha-thalassemia/mental Retardation Syndrome, X-linked; Mental Retardation-hypotonic Facies Syndrome, X-linked, 1; Alpha-thalassemia Myelodysplasia Syndrome