| Primary Identifier | MGI:2444506 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 270669 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metalloendopeptidase activity and transcription regulator activator activity. Involved in mitotic G2 DNA damage checkpoint signaling. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be active in cytoplasm. Is expressed in several structures, including cerebellum; genitourinary system; hemolymphoid system gland; liver; and pallium. Human ortholog(s) of this gene implicated in X-linked keratosis follicularis spinulosa decalvans; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques; ichthyosis follicularis-alopecia-photophobia syndrome 1; and osteogenesis imperfecta type 19. Orthologous to human MBTPS2 (membrane bound transcription factor peptidase, site 2). PHENOTYPE: Homo- or hemizygosity for the p.N455S mutation is embryonic lethal, while female heterozygosity affects bone mineralization and articular cartilage development. Homo- or hemizygosity for a KO allele is embryonic lethal, while female heterozygosity affects articular cartilage development. [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
