| Health / Medical Topics |
ATRX wt Allele
Human ATRX wild-type allele is located within Xq13.1-q21.1 and is approximately 281 kb in length. This allele, which encodes transcriptional regulator ATRX protein, is involved in the modulation of both transcription and chromatin structure. Mutations in the gene are associated with X-linked alpha-thalassemia/mental retardation syndrome, mental retardation syndromic X-linked with hypotonic facies syndrome type 1, and alpha-thalassemia myelodysplasia syndrome. (NCI Thesaurus)
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