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Title: Pax1  
Author: World Heritage Encyclopedia
Language: English
Subject: Pax genes, MEOX2, Induced stem cells, Transcription factors, NeuroD
Collection: Transcription Factors
Publisher: World Heritage Encyclopedia


Paired box 1
Symbols  ; HUP48; OFC2
External IDs GeneCards:
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.[1][2]


  • Function 1
  • Interactions 2
  • See also 3
  • References 4
  • Further reading 5
  • External links 6


This gene is a member of the paired box (PAX) family of transcription factors which are essential during fetal development. It is required for the development of the ventral vertebral column. Its expression is limited to the cells that surround the developing vertebrae near the top where the head will be established to help give rise to the neck and the start of the formation of the shoulders and arm buds. Cancers, such as ovarian and cervical cancers, add a methyl (CH3) group which silences, or disables, the gene which may be able to suppress the tumor by regulating when other cells divide and increase. A substitution or deletion of this gene in mice can produce variants of the mutant undulated which is characterized by segmentation abnormalities along the inner spine. Mutations in the human gene may contribute to the condition of Klippel–Feil syndrome, which is the failure of the vertebrae to segment near the top of the spine and possibly further down with symptoms including a short, immovable neck and a low hairline on the back of the head. [3][4][5][6]


PAX1 has been shown to interact with MEOX1[7] and MEOX2.[7]

See also


  1. ^ Schnittger S, Rao VV, Deutsch U, Gruss P, Balling R, Hansmann I (Dec 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.  
  2. ^ "Entrez Gene: PAX1 paired box gene 1". 
  3. ^ "Genes and Mapped Phenotypes". 
  4. ^ Hofmann C, Drossopoulou G, McMahon A, Balling R, Tickle C (1998). "Inhibitory action of BMPs on Pax1 expression and on shoulder girdle formation during limb development". Dev. Dyn. 213 (2): 199–206.  
  5. ^ Wallin J, Wilting J, Koseki H, Fritsch R, Christ B, Balling R (1994). "The role of Pax-1 in axial skeleton development". Development 120 (5): 1109–21.  
  6. ^ McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M (2003). "Mutations in PAX1 may be associated with Klippel-Feil syndrome". Eur. J. Hum. Genet. 11 (6): 468–74.  
  7. ^ a b Stamataki D, Kastrinaki M, Mankoo BS, Pachnis V, Karagogeos D (2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. 499 (3): 274–8.  

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.  
  • 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.  
  • Smith CA, Tuan RS (1994). "Human PAX gene expression and development of the vertebral column". Clin. Orthop. Relat. Res. (302): 241–50.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature 414 (6866): 865–71.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  

External links

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