ATRX wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - ATR-X Gene - ATR2 - ATRX, Chromatin Remodeler wt Allele - Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 (S. cerevisiae) Homolog) Gene - Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 Homolog, S. cerevisiae) Gene - Alpha Thalassemia/Mental Retardation Syndrome X-Linked Gene - Helicase 2, X-Linked Gene - Juberg-Marsidi Syndrome Gene - MGC2094 - MRXHF1 - Mental Retardation, X-Linked 52 Gene - RAD54 - RAD54 Homolog (S. cerevisiae) Gene - RAD54L - SFM1 - SHS - X-Linked Nuclear Protein Gene - XH2 - XNP - ZNF-HX