| Primary Identifier | MGI:2652847 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 241296 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cyclic-GMP-AMP transmembrane transporter activity; identical protein binding activity; and volume-sensitive anion channel activity. Involved in several processes, including cyclic-GMP-AMP transmembrane import across plasma membrane; positive regulation of insulin secretion; and protein hexamerization. Located in plasma membrane. Part of monoatomic ion channel complex. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; nervous system; and upper leg. Human ortholog(s) of this gene implicated in agammaglobulinemia and agammaglobulinemia 5. Orthologous to human LRRC8A (leucine rich repeat containing 8 VRAC subunit A). PHENOTYPE: Homozygous for a knock-out allele exhibit prenatal lethality and premature death, growth retardation, sterility, multiple tissue abnormalities, a severe block in early thymic development, and impaired peripheral T cell function. B cell development is modestly impaired but B cell function is normal. [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
