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Gene Review

PAFAH1B1  -  platelet-activating factor acetylhydrolase...

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Synonyms: LIS-1, LIS1, MDCR
 
 
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High impact information on PAFAH1B1

  • During fetal development, the preferentially expressed alpha(1)-subunit forms a homodimer, which binds to a homodimer of LIS1, whereas in adult organisms alpha(1)/alpha(2) and alpha(2)/alpha(2) dimers, also bound to dimeric LIS1, are the prevailing species [1].
  • This oligomeric protein complex contains three types of subunits: two homologous (63% identity) 26 kDa catalytic subunits (alpha(1) and alpha(2)) which harbor all the PAF-AH activity, and the 45 kDa beta-subunit (LIS1), a product of the causal gene for Miller-Dieker lissencephaly [1].

References

  1. The functional implications of the dimerization of the catalytic subunits of the mammalian brain platelet-activating factor acetylhydrolase (Ib). McMullen, T.W., Li, J., Sheffield, P.J., Aoki, J., Martin, T.W., Arai, H., Inoue, K., Derewenda, Z.S. Protein Eng. (2000) [Pubmed]
 
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