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FLASH GENE
Symbol PAFAH1B1 contributors: shn/mct - updated : 07-07-2015
HGNC name platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
HGNC id 8574
ASSOCIATED DISORDERS
corresponding disease(s) LIS1 , MDS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in the brain tissue from schizophrenia
constitutional     --over  
in the developing brain results in brain abnormalities
tumoral     --low  
in hepatocellular carcinoma
constitutional     --low  
causes desmosomal defects, characterized by decreased levels of desmosomal components, decreased attachment of keratin filaments, and increased turnover of desmosomal proteins at the cell cortex
constitutional     --other  
defects in a PAFAH1B1/NdDEL1 regulatory switch could contribute to neurodegenerative diseases linked to axonal pathology in adults
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
  • calpain inhibition is a potential therapeutic intervention for lissencephaly caused by LIS mutations (
  • ANIMAL & CELL MODELS
  • Pafah1b1(+/-) mice have hippocampal layering defects, whereas homozygous mutants are embryonic lethal
  • Homozygous null mice die early in embryogenesis while mice with one inactive allele display cortical, hippocampal and olfactory bulb disorganization resulting from delayed neuronal migration by a cell-autonomous neuronal pathway. Mice with further reduction of Pafah1b1 activity display more severe brain disorganization and cerebellar defects (
  • Homozygote mice deleted for the first coding exon are early lethal. Heterozygotes are viable and fertile but exhibite an aberrant morphology of cortical neurons and radial glia in the developing cortex and the neurons migrate more slowly (
  • Mutation in a C. elegans lis-1 allele (pnm-1) leads to convulsions mimicking epilepsy
  • neocortex of the Lis1-Nde1 double mutant mice showed over 80% reduction in surface area and inverted neuronal layers. Dramatically increased neuronal differentiation at the onset of corticogenesis in the mutant led to overproduction and abnormal development of earliest-born preplate neurons and Cajal-Retzius cells at the expense of progenitors (