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Gene Review

PABX  -  pseudoautosomal boundary region, X-linked

Homo sapiens

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Disease relevance of PABX

  • Although the locus for X-linked recessive chondrodysplasia punctata (CDPX1) has been mapped to the region between PABX and DXS31 (the critical region is about 3 Mb long), the precise location within the critical region has not been determined [1].

High impact information on PABX

  • We have also identified a radiation-reduced somatic cell hybrid, Z4-7, that contains DXS31, DXS452, STS, DXS143, and DXS85, but not PABX, DXS16, or other single-copy probes from proximal Xp and Xq [2].
  • The dic(X;Y) chromosome was also positive for X markers DXZ1 and a sequence < 300 kb from PABX, suggesting that the deletion encompassed only pseudoautosomal sequences [3].


  1. Refinement of the locus for X-linked recessive chondrodysplasia punctata. Muroya, K., Ogata, T., Rappold, G., Klink, A., Nakahori, Y., Fukushima, Y., Aizu, K., Matsuo, N. Hum. Genet. (1995) [Pubmed]
  2. Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region. Schnur, R.E., Wick, P.A., Sosnoski, D.N., Bick, D., Nussbaum, R.L. Genomics (1993) [Pubmed]
  3. A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. Wei, F., Cheng, S., Badie, N., Elder, F., Scott, C., Nicholson, L., Ross, J.L., Zinn, A.R. Am. J. Med. Genet. (2001) [Pubmed]
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