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Gene Review

NAP1L2  -  nucleosome assembly protein 1-like 2

Homo sapiens

Synonyms: BPX, Brain-specific protein, X-linked, MGC26243, Nucleosome assembly protein 1-like 2
 
 
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Disease relevance of NAP1L2

 

High impact information on NAP1L2

  • The Xq13 region, whose orientation is apparently globally conserved between man and mouse, must therefore contain an inversion of at least 600 kb spanning the XIST sequence and including the CDX4 and BPX genes [2].
  • In addition to mapping of the brain-specific gene (NAP1L2) and the phosphoglyceryl kinase alpha subunit 1 gene (PHKA1) and generation and mapping of a large number of STSs throughout the contig, we have mapped a putative transcriptional regulatory protein (HDACL1), and 35 ESTs [3].
  • X-linked familial and spontaneous cases of NTD were analyzed for sequence alterations in the human NAP1L2 [1].
 

Biological context of NAP1L2

References

  1. SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects? Rogner, U.C., Danoy, P., Matsuda, F., Moore, G.E., Stanier, P., Avner, P. Am. J. Med. Genet. (2002) [Pubmed]
  2. Cloning and characterization of a murine brain specific gene Bpx and its human homologue lying within the Xic candidate region. Rougeulle, C., Avner, P. Hum. Mol. Genet. (1996) [Pubmed]
  3. Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia. McDonell, N., Ramser, J., Francis, F., Vinet, M.C., Rider, S., Sudbrak, R., Riesselman, L., Yaspo, M.L., Reinhardt, R., Monaco, A.P., Ross, F., Kahn, A., Kearney, L., Buckle, V., Chelly, J. Genomics (2000) [Pubmed]
 
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