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Paired Box Gene 3 (PAX3)

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CDHS; HUP2; WS1; Waardenburg Syndrome 1

Paired Box Gene 3 (PAX3)
CCC H443
HGNC 8617
MGI 97487
PubMed 22862948
RGD 620431
UniProt P23760
Wiki PAX3
PAX3 is a gene that belongs to the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. It transcribes a 479 amino acid protein in humans.The gene coding for this transcription factor has locus at band 2q35-37.3.
PAX3 has been identified with ear, eye and facial development. Mutations in it can cause Waardenburg syndrome types 1 and 3 . It is expressed in early embryonic phases in dermatomyotome of paraxial mesoderm which it helps to demarcate. In that way PAX3 contributes to early striated muscle development since all myoblasts are derived from dermatomyotome of paraxial mesoderm.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Paired Box Gene 3 (PAX3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Paired Box Gene 3 (PAX3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Paired Box Gene 3 (PAX3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Paired Box Gene 3 (PAX3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Paired Box Gene 3 (PAX3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Paired Box Gene 3 (PAX3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Paired Box Gene 3 (PAX3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Paired Box Gene 3 (PAX3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Paired Box Gene 3 (PAX3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Paired Box Gene 3 (PAX3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Paired Box Gene 3 (PAX3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Paired Box Gene 3 (PAX3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Paired Box Gene 3 (PAX3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Paired Box Gene 3 (PAX3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Paired Box Gene 3 (PAX3) ELISA Kit Customized Service Offer
  1. "Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin."Int. J. Cancer 108:314-320(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma."Genomics 26:1-8(1995) [PubMed] [Europe PMC] [Abstract]
  6. "Conservation of the paired domain in metazoans and its structure in three isolated human genes."EMBO J. 8:1183-1190(1989) [PubMed] [Europe PMC] [Abstract]
  7. "PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse."Hum. Mol. Genet. 3:1069-1074(1994) [PubMed] [Europe PMC] [Abstract]
  8. "Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues."Hum. Genet. 93:270-274(1994) [PubMed] [Europe PMC] [Abstract]
  9. "Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1."Cancer Res. 64:5539-5545(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene."Nature 355:635-636(1992) [PubMed] [Europe PMC] [Abstract]
  11. "Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma."Nat. Genet. 5:230-235(1993) [PubMed] [Europe PMC] [Abstract]
  12. "The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx."EMBO J. 18:3702-3711(1999) [PubMed] [Europe PMC] [Abstract]
  13. "A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family."Hum. Mol. Genet. 1:243-247(1992) [PubMed] [Europe PMC] [Abstract]
  14. "Functional analysis of alternative isoforms of the transcription factor PAX3 in melanocytes in vitro."Cancer Res. 66:8574-8580(2006) [PubMed] [Europe PMC] [Abstract]
  15. "Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation."Int. J. Biochem. Cell Biol. 43:936-945(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Structural basis for DNA recognition by the human PAX3 homeodomain."Biochemistry 48:1148-1155(2009) [PubMed] [Europe PMC] [Abstract]
  17. "An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome."Nature 355:637-638(1992) [PubMed] [Europe PMC] [Abstract]
  18. "Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2."Nat. Genet. 3:26-30(1993) [PubMed] [Europe PMC] [Abstract]
  19. "Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)."Am. J. Hum. Genet. 52:455-462(1993) [PubMed] [Europe PMC] [Abstract]
  20. "A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1)."Hum. Mutat. 4:227-228(1994) [PubMed] [Europe PMC] [Abstract]
  21. "Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families."Am. J. Hum. Genet. 56:75-83(1995) [PubMed] [Europe PMC] [Abstract]
  22. "Homozygosity for Waardenburg syndrome."Am. J. Hum. Genet. 56:1173-1178(1995) [PubMed] [Europe PMC] [Abstract]
  23. "Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature."Am. J. Med. Genet. 58:115-122(1995) [PubMed] [Europe PMC] [Abstract]
  24. "The mutational spectrum in Waardenburg syndrome."Hum. Mol. Genet. 4:2131-2137(1995) [PubMed] [Europe PMC] [Abstract]
  25. "Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?"Hum. Mol. Genet. 5:497-502(1996) [PubMed] [Europe PMC] [Abstract]
  26. "Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome."Hum. Mutat. 7:30-35(1996) [PubMed] [Europe PMC] [Abstract]
  27. "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida."J. Med. Genet. 33:655-660(1996) [PubMed] [Europe PMC] [Abstract]
  28. "Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1."Hum. Mutat. 9:177-180(1997) [PubMed] [Europe PMC] [Abstract]
  29. "Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)."Hum. Mutat. Suppl. 1:S145-S147(1998) [PubMed] [Europe PMC] [Abstract]
  30. "Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7."J. Med. Genet. 35:248-250(1998) [PubMed] [Europe PMC] [Abstract]
  31. "A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2."Mol. Cell. Probes 12:55-57(1998) [PubMed] [Europe PMC] [Abstract]
  32. "A novel missense mutation Ile59Asn in the PAX3 gene in a family with Waardenburg syndrome type I."Hum. Mutat. 13:85-85(1999)