" /> NBN wt Allele - CISMeF





Preferred Label : NBN wt Allele;

NCIt synonyms : NBS1; Nijmegen Breakage Syndrome 1 (Nibrin) Gene; AT-V1 Gene; NBS1 wt Allele; ATV Gene; AT-V2 Gene; Nijmegen Breakage Syndrome 1 Gene; P95; Nibrin wt Allele; NBS;

NCIt definition : Human NBN wild-type allele is located within 8q21 and is approximately 51 kb in length. This allele, which encodes nibrin protein, is involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. Functional mutations in the NBN gene produce allelic variants that are involved in Nijmegen breakage syndrome.;

NCIt note : Human NBS1 Gene at 8q21 contains sixteen exons over 50 kb that encode 754-amino acid Nibrin, likely involved in DNA double-strand break (DSB) repair, checkpoint activation, and apoptosis. C8ORF1 (5-prime), NBS1 (3-prime), DECR1 (5-prime), and CALB1 (3-prime) occur in an 800 kb region. Highly expressed in testis and organs with physiologic DNA DSB or high proliferative activity; 2.4- and 4.4 kb NBS1 transcripts occur widely.;

GenBank Accession Number : AF058696;

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12/05/2024


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