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Gene: PAFAH1B3  -  platelet-activating factor acetylhydrolase...

Homo sapiens

Synonyms: PAF acetylhydrolase 29 kDa subunit, PAF-AH 29 kDa subunit, PAFAHG, PAF-AH gamma subunit, PAFAH gamma subunit, PAF-AH subunit gamma, PAFAH subunit gamma, Platelet-activating factor acetylhydrolase IB gamma subunit, Platelet-activating factor acetylhydrolase IB subunit gamma
 
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Disease relevance of PAFAH1B3

 

High impact information on PAFAH1B3

  • Truncated PAFAH1B3 protein lost its potential to interact with LIS1 whereas CLK2 activity was conserved within the fusion protein [1].
  • Lis1 is a subunit of a brain platelet-activating factor acetylhydrolase (PAFAH1B) where it forms a heterotrimeric complex with two hydrolase subunits, referred to as 29 kDa (PAFAH1B3) and 30 kDa (PAFAH1B2) [2].
 

Biological context of PAFAH1B3

  • The beta and gamma subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively [3].
  • One expressed fusion gene encodes the first 136 amino acids of PAFAH1B3 followed by the complete CLK2 protein [1].

References

  1. Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. Nothwang, H.G., Kim, H.G., Aoki, J., Geisterfer, M., Kübart, S., Wegner, R.D., van Moers, A., Ashworth, L.K., Haaf, T., Bell, J., Arai, H., Tommerup, N., Ropers, H.H., Wirth, J. Hum. Mol. Genet. (2001)
  2. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Sweeney, K.J., Clark, G.D., Prokscha, A., Dobyns, W.B., Eichele, G. Mech. Dev. (2000)
  3. The beta and gamma subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively. Moro, F., Arrigo, G., Fogli, A., Bernard, L., Carrozzo, R. Genomics (1998)
 
 
 
 
 
 
 
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