HOXD13 is the first of several HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities.

2025年3月30日 · HOXD13 (Homeobox D13) is a Protein Coding gene. Diseases associated with HOXD13 include Brachydactyly-Syndactyly Syndrome and Synpolydactyly 1 . Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding .

2025年2月8日 · Title: Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing. Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders.

Although the entire HOX network plays a central role in cancer development and progression, the most posterior genes of the network, HOX13 paralogues (HOXA13, HOXB13, HOXC13 and HOXD13), specifically, are crucial in modulating these …

HOXD13 gene mutation was responsible for the synpolydactyly (SPD) phenotype in this family. results show the first nonsense mutation in the HOXD13 gene underlying a severe form of SPD in the homozygous state, and a milder form of SPD with approximately 50% penetrance in the heterozygous state.

2025年1月4日 · Clinical resource with information about HOXD13, Brachydactyly type D, Brachydactyly type E1, Brachydactyly-syndactyly syndrome, Syndactyly type 5, Synpolydactyly type 1, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

During vertebrate limb development, Hoxd genes are regulated following a bimodal strategy involving two topologically associating domains (TADs) located on either side of the gene cluster. This work shows that the HOX13 proteins themselves help switch off the telomeric TAD.