Mbtps2 - membrane-bound transcription factor peptidase, site 2

Predicted to enable metalloendopeptidase activity. Predicted to be involved in several processes, including bone maturation; membrane protein intracellular domain proteolysis; and regulation of transcription, DNA-templated. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be active in cytoplasm. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and lung. 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). [provided by Alliance of Genome Resources, Apr 2022]