| Primary Identifier | MGI:3033992 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 242653 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity and paracellular tight junction channel activity. Involved in renal absorption and retinal pigment epithelium development. Acts upstream of or within apical junction assembly; neuronal action potential propagation; and tight junction organization. Located in several cellular components, including Schmidt-Lanterman incisure; mesaxon; and paranodal junction. Is expressed in several structures, including alimentary system; cerebellum; gonad; metanephros; and midbrain. Human ortholog(s) of this gene implicated in renal hypomagnesemia 5 with ocular involvement. Orthologous to human CLDN19 (claudin 19). PHENOTYPE: Mice homozygous for a knock-out allele exhibit a peripheral neuropathy associated with significant behavioral abnormalities, a complete lack of tight junctions from myelinated Schwann cells, and abnormal nerve conduction parameters of peripheral myelinated fibers. [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
