" /> HIRA wt Allele - CISMeF





Preferred Label : HIRA wt Allele;

NCIt synonyms : DiGeorge Syndrome Critical Region Gene 1; DGCR1; TUPLE1; TUP1; HIR; Histone Cell Cycle Regulator wt Allele; DiGeorge Critical Region Gene 1; HIR (Histone Cell Cycle Regulation Defective) Homolog A (S. cerevisiae) Gene; HIR, S. cerevisiae, Homolog of Gene; TUP-Like Enhancer of Split 1 Gene; Histone Cell Cycle Regulation Defective, S. cerevisiae, Homolog of, A Gene; HIR Histone Cell Cycle Regulation Defective Homolog A (S. cerevisiae) Gene;

NCIt definition : Human HIRA wild-type allele is located in the vicinity of 22q11.2 or 22q11.21 and is approximately 101 kb in length. This allele, which encodes protein HIRA, is involved in the modulation of chromatin structure. Haploinsufficiency of the gene may be a factor in DiGeorge syndrome.;

NCIt note : Hemizygous deletion of chromosome 22q11.2 causes haploinsufficiency of both the HIRA gene and the TBX1 gene and is associated with the 22q11.2 deletion syndrome. The phenotype of this syndrome can include symptoms of either velocardiofacial syndrome or DiGeorge syndrome or a combination of indications for both syndromes. (OMIM);

GenBank Accession Number : X75296;

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12/05/2024


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