LMPD Database

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LMP000180

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol transfer protein, alpha
Protein EntryPIPNA_MOUSE
UniProt IDP53810
SpeciesMouse
Comments
Comment typeDescription
DiseaseNote=Defects in Pitpna are the cause of the vibrator phenotype which is characterized by early-onset progressive action tremor, degeneration of brain stem and spinal cord neurons, and juvenile death. The mutation is due to the insertion of an intracisternal A particle retrotransposon in intron 4 which results in a 5-fold reduction in protein levels. {ECO:0000269|PubMed:9182797}.
FunctionCatalyzes the transfer of PtdIns and phosphatidylcholine between membranes.
SimilarityBelongs to the PtdIns transfer protein family. PI transfer class I subfamily. {ECO:0000305}.
Subcellular LocationCytoplasm.