Primary Identifier | MGI:3613666 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 228432 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phospholipid scramblase activity. Acts upstream of or within calcium activated galactosylceramide scrambling; calcium activated phosphatidylcholine scrambling; and establishment of localization in cell. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; apical ectodermal ridge; nervous system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in dystonia 24. Orthologous to human ANO3 (anoctamin 3). PHENOTYPE: Mice with brain-specific or Ptgds-expressing cell knock-out display greater susceptibility of hyperthermia-induced seizures and deficiency in thermoregulation. [provided by MGI curators] |