Primary Identifier | MGI:1916910 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 69660 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium channel activity and death receptor binding activity. Involved in negative regulation of catalytic activity and positive regulation of blood vessel remodeling. Predicted to be located in endosome membrane and lysosomal membrane. Predicted to be active in Golgi apparatus; endoplasmic reticulum; and membrane. Is expressed in esophagus epithelium; heart valve; naris; and stomach. Orthologous to human TMBIM1 (transmembrane BAX inhibitor motif containing 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age. [provided by MGI curators] |