PAX1

Paired box gene 1
Identifiers
Symbols	PAX1 ; HUP48
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4514
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PAX1 214401 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Paired box gene 1, also known as PAX1, is a human gene.

See also

• Pax genes

Further reading

• Bannykh SI, Emery SC, Gerber JK; et al. (2004). "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review". Am. J. Med. Genet. A. 120 (2): 241–6. doi:10.1002/ajmg.a.20192. PMID 12833407.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schnittger S, Rao VV, Deutsch U; et al. (1992). "Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH)". Genomics. 14 (3): 740–4. PMID 1358810.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Burri M, Tromvoukis Y, Bopp D; et al. (1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183–90. PMID 2501086.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Smith CA, Tuan RS (1994). "Human PAX gene expression and development of the vertebral column". Clin. Orthop. Relat. Res. (302): 241–50. PMID 7909508.
• Stapleton P, Weith A, Urbánek P; et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hol FA, Geurds MP, Chatkupt S; et al. (1996). "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida". J. Med. Genet. 33 (8): 655–60. PMID 8863157.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wilm B, Dahl E, Peters H; et al. (1998). "Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency". Proc. Natl. Acad. Sci. U.S.A. 95 (15): 8692–7. PMID 9671740.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stamataki D, Kastrinaki M, Mankoo BS; et al. (2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. 499 (3): 274–8. PMID 11423130.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Deloukas P, Matthews LH, Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Eraly SA, Hamilton BA, Nigam SK (2003). "Organic anion and cation transporters occur in pairs of similar and similarly expressed genes". Biochem. Biophys. Res. Commun. 300 (2): 333–42. PMID 12504088.CS1 maint: Multiple names: authors list (link)
• McGaughran JM, Oates A, Donnai D; et al. (2004). "Mutations in PAX1 may be associated with Klippel-Feil syndrome". Eur. J. Hum. Genet. 11 (6): 468–74. doi:10.1038/sj.ejhg.5200987. PMID 12774041.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Giampietro PF, Raggio CL, Reynolds CE; et al. (2005). "An analysis of PAX1 in the development of vertebral malformations". Clin. Genet. 68 (5): 448–53. doi:10.1111/j.1399-0004.2005.00520.x. PMID 16207213.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• PAX1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.