| Primary Identifier | MGI:1927235 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 56453 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables serine-type endopeptidase activity. Involved in membrane protein intracellular domain proteolysis and mitotic G2 DNA damage checkpoint signaling. Acts upstream of or within lipid metabolic process. Located in Golgi stack. Is expressed in several structures, including central nervous system; ectoplacental cone; genitourinary system; and somite. Used to study idiopathic scoliosis. Human ortholog(s) of this gene implicated in spondyloepiphyseal dysplasia Kondo-Fu type. Orthologous to human MBTPS1 (membrane bound transcription factor peptidase, site 1). PHENOTYPE: Mice homozygous for a gene trap allele die prior to implantation. Mice homozygous for an ENU-induced allele exhibit hypopigmentation, reduced female fertility, altered lipid homeostasis, and increased susceptibility to induced colitis. [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
