Primary Identifier | MGI:95714 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 14611 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable gap junction hemi-channel activity and identical protein binding activity. Predicted to be involved in several processes, including gap junction-mediated intercellular transport; response to hydrogen peroxide; and response to pH. Located in gap junction and plasma membrane. Is expressed in chondrocranium; lens; metanephros; and testis. Used to study cataract 14 multiple types. Human ortholog(s) of this gene implicated in cataract 14 multiple types. Orthologous to human GJA3 (gap junction protein alpha 3). PHENOTYPE: Homozygous mutants exhibit lens nuclear cataracts associated with breakdown of gamma crystallin. Severity of the defect is influenced by genetic background. [provided by MGI curators] |