| Primary Identifier | MGI:1915671 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 68421 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables AP-2 adaptor complex binding activity; clathrin heavy chain binding activity; and insulin receptor binding activity. Involved in clathrin-dependent endocytosis; gastrulation; and insulin receptor internalization. Located in clathrin-coated endocytic vesicle; lysosome; and plasma membrane. Is expressed in several structures, including extraembryonic component; hepatic primordium; liver; neural ectoderm; and primitive streak. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblF. Orthologous to human LMBRD1 (LMBR1 domain containing 1). PHENOTYPE: Mice heterozygous for a targeted allele exhibit increased cardiac cell glucose uptake. Mice homozygous for a null allele fail to gastrulate and die between E8.5 and E13.5. [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
