Gene

Pafah1b1

Species
Mus musculus
Symbol
Pafah1b1
Name
platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
Synonyms
  • LIS-1
  • LIS1
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity; microtubule binding activity; and phosphoprotein binding activity. Involved in several processes, including cortical microtubule organization; establishment of planar polarity; and inner ear development. Acts upstream of or within several processes, including cytoskeleton organization; nervous system development; and transport along microtubule. Located in several cellular components, including centrosome; perinuclear region of cytoplasm; and stereocilium. Part of microtubule associated complex. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study Miller-Dieker lissencephaly syndrome and lissencephaly. Human ortholog(s) of this gene implicated in lissencephaly and lissencephaly 1. Orthologous to human PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1).
MGI Description
PHENOTYPE: Mutations at this locus result in neuronal migration defects. Homozygous null mutants die around implantation. Different allelic combinations show variable cortical, hippocampal and olfactory disorganization and impaired spatial learning and coordination. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR44129
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
74.565M74.570M74.575M74.580M74.585M74.590M74.595M74.600M74.605M74.610M74.615M

Sequence Details

Loading...

Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions