| Primary Identifier | MGI:2144805 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 104799 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Acts upstream of or within several processes, including collagen fibril organization; collagen metabolic process; and intracellular protein transport. Predicted to be located in Golgi apparatus and endosome. Predicted to be part of vesicle tethering complex. Predicted to be active in cytoplasm. Is expressed in several structures, including central nervous system; retina layer; and skeletal muscle. Used to study ARC syndrome. Human ortholog(s) of this gene implicated in arthrogryposis, renal dysfunction, and cholestasis 2. Orthologous to human VIPAS39 (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog). PHENOTYPE: Mice homozygous for a conditional allele activated by an inducible cre exhibit dry and scaly skin, hair loss, and defects in tail tendon collagen I structure. [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
