| Primary Identifier | MGI:95713 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 14609 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables several functions, including beta-tubulin binding activity; scaffold protein binding activity; and transmembrane transporter activity. Involved in several processes, including cellular response to amyloid-beta; glutamate secretion; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including cell communication by chemical coupling; circulatory system development; and regulation of gene expression. Located in several cellular components, including fascia adherens; gap junction; and lateral plasma membrane. Is expressed in several structures, including alimentary system; embryo ectoderm; genitourinary system; heart and pericardium; and sensory organ. Used to study oculodentodigital dysplasia. Human ortholog(s) of this gene implicated in several diseases, including bone disease (multiple); erythrokeratodermia variabilis (multiple); hypoplastic left heart syndrome; oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to human GJA1 (gap junction protein alpha 1). PHENOTYPE: Mutant homozygotes are neonatal lethal with heart and outflow tract malformations, eye lens anomalies, and male germ cell deficiency. Conditional deletion in ovary affects follicular development, in astrocytes enhances locomotor activity, and in neural cells produces behavioral and neural defects. Homozygosity for the autosomal recessive craniometaphyseal dysplasia (CMD) associated p.R239Q mutation affects bone formation and leads to cranial and skeletal bone malformation. Homozygosity for the phosphorylation-blocking p.S282A mutation is embryonic lethal, while heterozygosity leads to pre-weaning death in many mice and arrhythmias and increased cardiomyocyte apoptosis in juveniles. [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
