| Primary Identifier | MGI:2140175 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 100017 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables amyloid-beta binding activity. Acts upstream of or within cholesterol homeostasis. Located in early endosome and neurofilament. Is expressed in extraembryonic endoderm; nose; and skin. Used to study autosomal recessive hypercholesterolemia. Human ortholog(s) of this gene implicated in autosomal recessive hypercholesterolemia. Orthologous to human LDLRAP1 (low density lipoprotein receptor adaptor protein 1). PHENOTYPE: Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH). [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
