| Primary Identifier | MGI:1196620 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 15451 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable serine-type endopeptidase activity. Involved in several processes, including cochlea morphogenesis; detection of mechanical stimulus involved in sensory perception of sound; and positive regulation of metabolic process. Acts upstream of or within cholesterol homeostasis; negative regulation of alkaline phosphatase activity; and sensory perception of sound. Located in cell-cell junction; neuronal cell body; and plasma membrane. Is expressed in several structures, including early conceptus; genitourinary system; gut; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in intellectual disability. Orthologous to human HPN (hepsin). PHENOTYPE: Mice homozygous for a null mutation are hypothyroidic and develop profound hearing loss associated with structural changes in the tectorial membrane and a myelination defect affecting the compaction of spiral ganglion neurons. [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
