This gene is a member of the paired box (PAX) family of transcription factors which are essential duringfetal development. It is required for the development of the ventralvertebral column. Its expression is limited to thepharyngeal 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 andarm buds. Cancers, such as ovarian and cervical cancers, add amethyl (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 mutantundulated which is characterized by segmentation abnormalities along the inner spine. Mutations in the human gene may contribute to the condition ofKlippel–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.[7][8][9][10]
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^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.PMID1358810.
^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.doi:10.1242/dev.120.5.1109.PMID8026324.
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.PMID12833407.S2CID1145497.
Smith CA, Tuan RS (1994). "Human PAX gene expression and development of the vertebral column".Clin. Orthop. Relat. Res. (302):241–50.PMID7909508.
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.PMID7981748.S2CID21338655.
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.doi:10.1016/S0006-291X(02)02853-X.PMID12504088.
