Primary Identifier | MGI:1309517 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 16432 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP binding activity. Predicted to be involved in negative regulation of amyloid precursor protein biosynthetic process. Predicted to be located in Golgi-associated vesicle membrane and extracellular space. Predicted to be active in Golgi apparatus and plasma membrane. Is expressed in central nervous system; pancreas epithelium; and retina. Used to study cerebral amyloid angiopathy. Human ortholog(s) of this gene implicated in ITM2B-related cerebral amyloid angiopathy 1 and ITM2B-related cerebral amyloid angiopathy 2. Orthologous to human ITM2B (integral membrane protein 2B). PHENOTYPE: Mice homozygous for a null mutation display increased levels of soluble APP fragments in the brain. Mice homozygous for a knock-in allele exhibit impaired oject recognition, impaired contextual conditioning, and impaired spatial working memory. [provided by MGI curators] |