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Gene Review

HPE1  -  holoprosencephaly 1, alobar

Homo sapiens

 
 
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Disease relevance of HPE1

 

High impact information on HPE1

  • 3. Analysis of the HPE patient-derived somatic cell hybrids showed that SIM2 is not deleted in two of three patients and thus is not a likely candidate for HPE1, the HPE gene on chromosome 21 [2].
  • Despite extensive pedigree analysis of numerous polymorphisms, as well as complementation studies in yeast on one of the missense mutations, we find no evidence that the LS gene is in fact HPE1, implicating another gene located in this chromosomal region in HPE pathogenesis [1].
  • The HPE1 locus in human chromosome 21q22.3 is one of a dozen putative genetic loci implicated in causing HPE [1].
  • N-terminal sequence analysis revealed a complete homology between this protein and human protease E (HPE 1), except for the two strongly hydrophobic N-terminal residues (Val-Val) which are missing in G32 [3].

References

  1. Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Roessler, E., Mittaz, L., Du, Y., Scott, H.S., Chang, J., Rossier, C., Guipponi, M., Matsuda, S.P., Muenke, M., Antonarakis, S.E. Hum. Genet. (1999) [Pubmed]
  2. Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. Muenke, M., Bone, L.J., Mitchell, H.F., Hart, I., Walton, K., Hall-Johnson, K., Ippel, E.F., Dietz-Band, J., Kvaløy, K., Fan, C.M. Am. J. Hum. Genet. (1995) [Pubmed]
  3. Identification of a procarboxypeptidase A-truncated protease E binary complex in human pancreatic juice. Moulard, M., Kerfelec, B., Mallet, B., Chapus, C. FEBS Lett. (1989) [Pubmed]
 
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