| Primary Identifier | MGI:1890508 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 230709 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables double-stranded DNA binding activity and metalloendopeptidase activity. Involved in nuclear envelope organization and protein maturation. Acts upstream of or within several processes, including heart development; regulation of intracellular signal transduction; and regulation of primary metabolic process. Located in membrane and nuclear envelope. Is expressed in early conceptus and oocyte. Used to study Emery-Dreifuss muscular dystrophy; familial partial lipodystrophy; and progeria. Human ortholog(s) of this gene implicated in mandibuloacral dysplasia type B lipodystrophy; restrictive dermopathy; and restrictive dermopathy 1. Orthologous to human ZMPSTE24 (zinc metallopeptidase STE24). PHENOTYPE: Mutants are deficient in proteolytic processing of prelamin A and display many abnormalities including retarded growth, bone fragility, hair loss, cardiomyopathy, muscular dystrophy and lipodystrophy. Most die prematurely, but some survive and reproduce. [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
