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PAX3 paired box 3

Gene ID: 5077, updated on 10-Mar-2024
Gene type: protein coding
Also known as: WS1; WS3; CDHS; HUP2; PAX-3


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]

Associated conditions

See all available tests in GTR for this gene

Alveolar rhabdomyosarcoma
MedGen: C0206655OMIM: 268220GeneReviews: Not available
See labs
Craniofacial-deafness-hand syndrome
MedGen: C1852510OMIM: 122880GeneReviews: Not available
See labs
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
GeneReviews: Not available
Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position.
GeneReviews: Not available
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
GeneReviews: Not available
Waardenburg syndrome type 1See labs
Waardenburg syndrome type 3
MedGen: C0079661OMIM: 148820GeneReviews: Not available
See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2020-05-27)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-05-27)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 2; NC_000002.12 (222199887..222298998, complement)
Total number of exons:


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