| Primary Identifier | MGI:97515 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 18552 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables peptide binding activity and serine-type endopeptidase activity. Involved in several processes, including embryo implantation; embryonic digestive tract development; and signaling receptor ligand precursor processing. Acts upstream of or within cardiac septum development; coronary vasculature development; and determination of left/right symmetry. Located in extracellular space. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; genitourinary system; and sensory organ. Used to study VACTERL association; primary ciliary dyskinesia; and visceral heterotaxy. Orthologous to human PCSK5 (proprotein convertase subtilisin/kexin type 5). PHENOTYPE: Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5. Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia. [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
