" /> HOXD13 wt Allele - CISMeF





Preferred Label : HOXD13 wt Allele;

NCIt synonyms : BDE; SPD; HOX4I; Homeo Box 4I Gene; Homeo Box D13 Gene; Homeobox D13 wt Allele; BDSD; Homeobox 4I Gene;

NCIt definition : Human HOXD13 wild-type allele is located in the vicinity of 2q31.1 and is approximately 3 kb in length. This allele, which encodes homeobox protein Hox-D13, is involved in transcriptional regulation. Mutation of the gene is associated with syndactyly type 5, sypolydactyly type 1 and brachydactyly types D and E.;

NCIt note : A 21 base-pair deletion in the exon 1 triplet repeats of the HOXD13 gene was identified in a patient with VACTERL association (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects) but the linkage between HOXD13 mutations and this disease hasn't been fully elucidated. (Am J Med Genet A. 2008;146A(24):3181-5. doi: 10.1002/ajmg.a.32426.);

GenBank Accession Number : AF005219;

PubMed : 19006232;

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12/05/2024


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