| Primary Identifier | MGI:2146574 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 106347 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables high-density lipoprotein particle receptor activity. Involved in several processes, including protein localization to tricellular tight junction; regulation of RNA splicing; and tricellular tight junction assembly. Acts upstream of or within cellular response to leukemia inhibitory factor and positive regulation of peptide hormone secretion. Located in plasma membrane and tricellular tight junction. Is expressed in olfactory epithelium. Used to study autosomal recessive nonsyndromic deafness 42. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 42. Orthologous to human ILDR1 (immunoglobulin like domain containing receptor 1). PHENOTYPE: Homozygous inactivation of this gene leads to progressive cochlear hair cell degeneration and profound deafness. Mice homozygous for a gene trap allele also exhibit impaired lipid-induced cholecystokinin secretion. [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
