| Primary Identifier | MGI:95719 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 14618 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Predicted to be involved in cell-cell signaling and purine ribonucleotide transport. Located in cytoplasm; gap junction; and plasma membrane. Is expressed in several structures, including forelimb; gut; inner ear; liver; and metanephros. Used to study Charcot-Marie-Tooth disease X-linked dominant 1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease X-linked dominant 1. Orthologous to human GJB1 (gap junction protein beta 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit a modest decrease in body weight, enhanced neuronal sensitivity to ischemic insults, and increased susceptibility to both spontaneous and chemically-induced liver tumors. [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
