CBX1 Antibody – Mouse Monoclonal

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

PAX3: Probable transcription factor associated with development of alveolar rhabdomyosarcoma. Can bind to DNA as a heterodimer with PAX7. Interacts with DAXX. Belongs to the paired homeobox family. 7 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Oncoprotein; Transcription factor

Chromosomal Location of Human Ortholog: 2q36.1

Cellular Component: nucleoplasm

Molecular Function: protein binding; sequence-specific DNA binding

Biological Process: apoptosis; organ morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; sensory perception of sound; transcription from RNA polymerase II promoter

Disease: Craniofacial-deafness-hand Syndrome; Rhabdomyosarcoma 2; Waardenburg Syndrome, Type 1; Waardenburg Syndrome, Type 3