| Primary Identifier | MGI:97513 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 18550 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables serine-type endopeptidase activity. Involved in blastocyst formation and signal peptide processing. Acts upstream of or within protein processing; regulation of cholesterol transport; and regulation of signal transduction. Is active in Golgi lumen and trans-Golgi network. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and integumental system. Orthologous to human FURIN (furin, paired basic amino acid cleaving enzyme). PHENOTYPE: Homozygous null embryos die at E10.5-E11.5. Embryos homozygous for one knock-out allele show multiple tissue abnormalities including abnormal yolk sac vasculature and chorioallantoic fusion, failure of axial rotation, a kinked neural tube, exencephaly and severe ventral closure and cardiac defects. [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
