| Primary Identifier | MGI:1921050 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 70551 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATPase binding activity and dolichyl-phosphate-mannose-protein mannosyltransferase activity. Acts upstream of or within several processes, including endoplasmic reticulum unfolded protein response; outer hair cell apoptotic process; and positive regulation of endoplasmic reticulum calcium ion concentration. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including adrenal gland; alimentary system; eye; genitourinary system; and nervous system. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human TMTC4 (transmembrane O-mannosyltransferase targeting cadherins 4). PHENOTYPE: Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics. [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
