" /> ATRX wt Allele - CISMeF





Preferred Label : ATRX wt Allele;

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

NCIt 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.;

GenBank Accession Number : U72937;

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12/05/2024


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