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Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1)

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MDCR; LIS1; LIS2; PAFAH; Lissencephaly-1 protein; Miller-Dieker Syndrome Chromosome Region; Platelet-Activating Factor Acetylhydrolase,Isoform Ib,Alpha Subunit 45kDa

Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1)
CCC E160
HGNC 8574
MGI 109520
PubMed 9697693
RGD 620331
UniProt P43034
Wiki PAFAH1B1
PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker syndrome. PAFAH1B1 encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum.According to one study, PAFAH1B1 interacts with VLDLR receptor activated by reelin.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Platelet Activating Factor Acetylhydrolase Ib1 (PAFAH1B1) ELISA Kit Customized Service Offer
  1. "Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats."Nature 364:717-721(1993) [PubMed] [Europe PMC] [Abstract]
  2. "Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome."Hum. Mol. Genet. 6:157-164(1997) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Interaction between LIS1 and doublecortin, two lissencephaly gene products."Hum. Mol. Genet. 9:2205-2213(2000) [PubMed] [Europe PMC] [Abstract]
  7. "LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome."Neuron 28:665-679(2000) [PubMed] [Europe PMC] [Abstract]
  8. "Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function."J. Cell Biol. 156:959-968(2002) [PubMed] [Europe PMC] [Abstract]
  9. "LIS1, CLIP-170's key to the dynein/dynactin pathway."Mol. Cell. Biol. 22:3089-3102(2002) [PubMed] [Europe PMC] [Abstract]
  10. "Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle."Mol. Cell. Biol. 23:1239-1250(2003) [PubMed] [Europe PMC] [Abstract]
  11. "Nudel functions in membrane traffic mainly through association with Lis1 and cytoplasmic dynein."J. Cell Biol. 164:557-566(2004) [PubMed] [Europe PMC] [Abstract]
  12. "Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration."J. Cell Biol. 165:709-721(2004) [PubMed] [Europe PMC] [Abstract]
  13. "Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders."Mol. Cell. Neurosci. 25:42-55(2004) [PubMed] [Europe PMC] [Abstract]
  14. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry."Mol. Biol. Cell 23:4713-4724(2012) [PubMed] [Europe PMC] [Abstract]
  17. "Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1."Hum. Mol. Genet. 8:1757-1760(1999) [PubMed] [Europe PMC] [Abstract]
  18. "LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ."Neurology 57:416-422(2001) [PubMed] [Europe PMC] [Abstract]
  19. "Mosaic mutations of the LIS1 gene cause subcortical band heterotopia."Neurology 61:1042-1046(2003) [PubMed] [Europe PMC] [Abstract]
  20. "Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia."Neurology 62:799-802(2004) [PubMed] [Europe PMC] [Abstract]