PAX3

Name

paired box 3

Type

protein-coding

Aliases

CDHS, HUP2, PAX-3, WS1, WS3

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].

via MyGene.info

Gene · Ensembl

paired box 3

Symbol

PAX3

Biotype

Protein coding

Organism

Homo sapiens

Location

2:222,199,887-222,299,011

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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