Primary Identifier | MGI:103067 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 22589 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity and histone binding activity. Involved in several processes, including cellular response to hydroxyurea; positive regulation of DNA metabolic process; and subtelomeric heterochromatin formation. Acts upstream of or within several processes, including male gonad development; positive regulation of transcription by RNA polymerase II; and post-embryonic forelimb morphogenesis. Located in PML body and chromosome. Colocalizes with chromosome, telomeric region. Is expressed in several structures, including alimentary system; early embryo; egg cylinder; genitourinary system; and nervous system. Used to study alpha thalassemia-X-linked intellectual disability syndrome. Human ortholog(s) of this gene implicated in X-linked mental retardation-hypotonic facies syndrome-1; alpha thalassemia-X-linked intellectual disability syndrome; alpha-thalassemia myelodysplasia syndrome; high grade glioma; and lung small cell carcinoma. Orthologous to human ATRX (ATRX chromatin remodeler). PHENOTYPE: Mice homozygous for a floxed allele activated in different tissues at different time points can serve as a model of alpha-thalassemia/mental retardation syndrome, nondeletion type, X-linked. [provided by MGI curators] |