Gene: PAFAH1B1

Alternate names for this Gene: LIS1|LIS2|MDCR|MDS|NudF|PAFAH

Gene Summary: This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: platelet activating factor acetylhydrolase 1b regulatory subunit 1

Type of Gene: protein-coding

rs140255439 in PAFAH1B1 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs113994198 in PAFAH1B1 gene and Classical Lissencephaly PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

PMID 9063735 1997 Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

PMID 15007136 2004 Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.

PMID 11163258 2000 LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.

PMID 15173193 2004 Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.

PMID 12885786 2003 LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties.

PMID 11115846 2000 The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 19667223 2009 LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.

rs797045865 in PAFAH1B1 gene and Dysmorphic features PMID 12668601 2003 Lissencephaly and the molecular basis of neuronal migration.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 9063735 1997 Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

PMID 9817918 1998 LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

PMID 24862549 2014 The genetics of lissencephaly.

PMID 28440899 2017 Lissencephaly: Expanded imaging and clinical classification.

rs113994198 in PAFAH1B1 gene and Ectopic Tissue PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

rs113994198 in PAFAH1B1 gene and Global developmental delay PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

rs12938775 in PAFAH1B1 gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs12938775 in PAFAH1B1 gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs797045865 in PAFAH1B1 gene and Overgrowth PMID 9063735 1997 Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

PMID 9817918 1998 LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 12668601 2003 Lissencephaly and the molecular basis of neuronal migration.

PMID 24862549 2014 The genetics of lissencephaly.

PMID 28440899 2017 Lissencephaly: Expanded imaging and clinical classification.

rs113994198 in PAFAH1B1 gene and Seizures PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.