Primary Identifier | MGI:106402 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 69981 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable aminophospholipid flippase activity and structural molecule activity. Involved in positive regulation of neuron projection development. Acts upstream of or within phospholipid translocation. Predicted to be located in early endosome membrane and late endosome membrane. Predicted to be part of phospholipid-translocating ATPase complex. Predicted to be active in Golgi apparatus; endoplasmic reticulum; and plasma membrane. Is expressed in extraembryonic component. Orthologous to human TMEM30A (transmembrane protein 30A). PHENOTYPE: Constitutive or neuronal conditional knockout is embryonic lethal. Conditional KO in the retina results in post-natal retinal degeneration. Conditional KO in the liver leads to jaundice, increased bilirubin and bile salt levels, liver inflammation and liver fibrosis. [provided by MGI curators] |