PAX1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.[1][2]

Function

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 pharyngeal pouches and 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]

Interactions

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

See also

References

  1. Schnittger S, Rao VV, Deutsch U, Gruss P, Balling R, Hansmann I (December 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. doi:10.1016/S0888-7543(05)80177-6. PMID 1358810.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  2. "Entrez Gene: PAX1 paired box gene 1".<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  3. "Genes and Mapped Phenotypes".<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  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. doi:10.1002/(SICI)1097-0177(199810)213:2<199::AID-AJA5>3.0.CO;2-B. PMID 9786420.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  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. PMID 8026324.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  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. doi:10.1038/sj.ejhg.5200987. PMID 12774041.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  7. 7.0 7.1 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. doi:10.1016/S0014-5793(01)02556-X. PMID 11423130.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>

Further reading

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External links

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