Gene: LOC107985991

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: PAX3

Alternate names for this Gene: CDHS|HUP2|WS1|WS3

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q36.1

Description of this Gene: paired box 3

Type of Gene: protein-coding

rs1978859 in LOC107985991;PAX3 gene and Primary biliary cirrhosis PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

rs1020175890 in LOC107985991;PAX3 gene and Waardenburg Syndrome Type 1 PMID 24651602 2014 American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.