| Primary Identifier | MGI:2442473 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 217344 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Involved in several processes, including hair follicle cell proliferation; hair follicle morphogenesis; and positive regulation of Notch signaling pathway. Acts upstream of or within protein localization to plasma membrane. Located in endoplasmic reticulum membrane and plasma membrane. Used to study palmoplantar keratoderma-esophageal carcinoma syndrome. Human ortholog(s) of this gene implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. Orthologous to human RHBDF2 (rhomboid 5 homolog 2). PHENOTYPE: Mice homozygous for a null mutation display impaired TNF secretion and increased sensitivity to bacterial infection induced mortality. [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
