Recombinant Human Paired box protein Pax-3 (PAX3)

Uniprot Id

P23760

Target Species

Human

Target Name

PAX3

Target Full Name

Paired box protein Pax-3

Target Function

Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10.

Target Involvement

Waardenburg syndrome 1 (WS1); Waardenburg syndrome 3 (WS3); Craniofacial-deafness-hand syndrome (CDHS); Rhabdomyosarcoma 2 (RMS2)

Target Subcellular Location

Nucleus.

Target Protein Families

Paired homeobox family

Target Synonyms

CDHS; HUP 2; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778; Paired box 3; Paired box gene 3; Paired box homeotic gene 3; Paired box protein Pax 3; Paired box protein Pax-3; Paired box protein Pax3; Paired domain gene 3; Paired domain gene HuP2; PAX 3; Pax3; PAX3/FKHR fusion gene; PAX3_HUMAN; Sp; splotch; Waardenburg syndrome 1; WS 1; WS1; WS3

Target Background

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.