PAX3 wt Allele

Human PAX3 wild-type allele is located within 2q35-q37 and is approximately 99 kb in length. This allele, which encodes paired box gene Pax-3 protein, plays a role in transcriptional regulation that is critical for fetal development. Mutations in this gene are associated with Waardenburg syndrome, and craniofacial-deafness-hand syndrome. Also, mutations or translocations involving the gene are associated with alveolar rhabdomyosarcoma. The rhabdomyosarcoma-related PAX3 gene translocations include t(2;13)(q35;q14) with the FOXO1 gene and t(2;2)(q35;p23) with the NCOA1 gene. (NCI Thesaurus)

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PAX3 Gene

This gene plays a role in the transcriptional activation of target genes. It is involved in melanogenesis, neurogenesis and skeletal muscle…

PAX2 wt Allele

Human PAX2 wt allele is located in the vicinity of 10q24.31 and is approximately 84 kb in length. This allele, which encodes…

PAX2 Gene

This gene is involved in gene expression and cellular proliferation.

PAX1 wt Allele

Human PAX1 wild-type allele is located in the vicinity of 20p11.2 and is approximately 10 kb in length. This allele, which encodes…

PAX1 Gene

This gene is involved in both skeletal development and T-cell differentiation.

PAX-Interacting Protein 1

PAX-interacting protein 1 (1069 aa, ~121 kDa) is encoded by the human PAXIP1 gene. This protein is involved in both DNA damage…