| Primary Identifier | MGI:1858417 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 53421 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ribosome binding activity and transmembrane transporter activity. Involved in pronephric nephron development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of Sec61 translocon complex. Is expressed in cerebral cortex; jaw; skeleton; and vibrissa. Human ortholog(s) of this gene implicated in common variable immunodeficiency; familial juvenile hyperuricemic nephropathy; and severe congenital neutropenia. Orthologous to human SEC61A1 (SEC61 translocon subunit alpha 1). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet. [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
