| Primary Identifier | MGI:1921173 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 68944 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium channel activity and ribosome binding activity. Involved in calcium ion transmembrane transport; endoplasmic reticulum calcium ion homeostasis; and ossification. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of multi-pass translocon complex. Predicted to be active in endoplasmic reticulum. Is expressed in clavicle; mandible; maxilla; and rib. Used to study craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome. Human ortholog(s) of this gene implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1. Orthologous to human TMCO1 (transmembrane and coiled-coil domains 1). PHENOTYPE: Homozygotes for a null allele show prenatal lethality, stunted growth, delayed osteogenesis, craniofacial anomalies, impaired coordination and spatial memory, altered Ca2+ homeostasis, and reduced survivor rate. Homozygotes for another null allele show female subfertility, impaired ovarian folliculogenesis, premature ovarian failure, and altered endoplasmic reticulum Ca2+ homeostasis in granulosa cells. [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
