| Primary Identifier | MGI:1923810 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 76560 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sodium channel regulator activity. Involved in transepithelial transport. Acts upstream of or within hair follicle development and positive regulation of sodium ion transport. Located in external side of plasma membrane and membrane raft. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and sensory organ. Used to study autosomal recessive congenital ichthyosis 4B and congenital secretory sodium diarrhea 3. Orthologous to human PRSS8 (serine protease 8). PHENOTYPE: Nullizygous mutations result in impaired skin barrier function, dehydration, and postnatal lethality. A mutation preventing activation of the enzyme causes abnormal whisker and hair 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
