| Primary Identifier | MGI:1924894 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 77644 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in endoplasmic reticulum membrane organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and protein exit from endoplasmic reticulum. Located in cell body and nucleus. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 107. Orthologous to human STEEP1 (STING1 ER exit protein 1). PHENOTYPE: Male chimeras hemizygous for a gene trapped allele exhibit abnormal midbrain-hindbrain boundary morphology and decreased forebrain size. A subset of male chimeras hemizygous for a different gene trapped allele exhibit embryonic growth retardation. [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
