PAFAH1B1

Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
File:PBB Protein PAFAH1B1 image.jpg PDB rendering based on 1uuj.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1uuj​, 1vyh​
Identifiers
Symbols	PAFAH1B1 ; MDCR; LIS1; LIS2; PAFAH
External IDs	Template:OMIM5 Template:MGI HomoloGene: 371
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PAFAH1B1 211547 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa, also known as PAFAH1B1, is a human gene.

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.

See also

• platelet-activating factor

Further reading

• Tjoelker LW, Eberhardt C, Wilder C; et al. (1997). "Functional and structural features of plasma platelet-activating factor acetylhydrolase". Adv. Exp. Med. Biol. 416: 107–11. PMID 9131135.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stafforini DM, McIntyre TM, Zimmerman GA, Prescott SM (1997). "Platelet-activating factor acetylhydrolases". J. Biol. Chem. 272 (29): 17895–8. PMID 9218411.CS1 maint: Multiple names: authors list (link)
• Yamada Y, Yokota M (1998). "Roles of plasma platelet-activating factor acetylhydrolase in allergic, inflammatory, and atherosclerotic diseases". Jpn. Circ. J. 62 (5): 328–35. PMID 9626899.
• Reiner O, Cahana A, Escamez T, Martinez S (2002). "LIS1-no more no less". Mol. Psychiatry. 7 (1): 12–6. doi:10.1038/sj/mp/4000975. PMID 11803439.CS1 maint: Multiple names: authors list (link)
• Guerrini R, Carrozzo R (2002). "Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing". Seizure : the journal of the British Epilepsy Association. 11 Suppl A: 532–43, quiz 544-7. PMID 12185771.
• Wynshaw-Boris A (2007). "Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development". Clin. Genet. 72 (4): 296–304. doi:10.1111/j.1399-0004.2007.00888.x. PMID 17850624.
• Mizuguchi M, Takashima S, Kakita A; et al. (1995). "Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome". Am. J. Pathol. 147 (4): 1142–51. PMID 7573359.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hattori M, Adachi H, Tsujimoto M; et al. (1994). "Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]". Nature. 370 (6486): 216–8. doi:10.1038/370216a0. PMID 8028668.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reiner O, Carrozzo R, Shen Y; et al. (1993). "Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats". Nature. 364 (6439): 717–21. doi:10.1038/364717a0. PMID 8355785.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reiner O, Bar-Am I, Sapir T; et al. (1996). "LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2". Genomics. 30 (2): 251–6. doi:10.1006/geno.1995.9880. PMID 8586424.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Isumi H, Takashima S, Kakita A; et al. (1997). "Expression of the LIS-1 gene product in brain anomalies with a migration disorder". Pediatr. Neurol. 16 (1): 42–4. PMID 9044400.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lo Nigro C, Chong CS, Smith AC; et al. (1997). "Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome". Hum. Mol. Genet. 6 (2): 157–64. PMID 9063735.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sapir T, Elbaum M, Reiner O (1998). "Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit". EMBO J. 16 (23): 6977–84. doi:10.1093/emboj/16.23.6977. PMID 9384577.CS1 maint: Multiple names: authors list (link)
• Morris SM, Albrecht U, Reiner O; et al. (1998). "The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC". Curr. Biol. 8 (10): 603–6. PMID 9601647.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pilz DT, Kuc J, Matsumoto N; et al. (2000). "Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1". Hum. Mol. Genet. 8 (9): 1757–60. PMID 10441340.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sapir T, Cahana A, Seger R; et al. (1999). "LIS1 is a microtubule-associated phosphoprotein". Eur. J. Biochem. 265 (1): 181–8. PMID 10491172.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sweeney KJ, Clark GD, Prokscha A; et al. (2000). "Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development". Mech. Dev. 92 (2): 263–71. PMID 10727864.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)