Aliases for GJA8 Gene
- Gap Junction Protein Alpha 8 2 3 5
- Lens Fiber Protein MP70 3 4
- Connexin 50 2 3
- CX50 3 4
- Gap Junction Protein, Alpha 8, 50kDa (Connexin 50) 2
- Gap Junction Protein, Alpha 8, 50kD (Connexin 50) 2
- Gap Junction Membrane Channel Protein Alpha-8 3
- Gap Junction Protein, Alpha 8, 50kDa 2
- Lens Intrinsic Membrane Protein MP70 3
- Gap Junction Protein Alpha 8 50kDa 3
External Ids for GJA8 Gene
Previous HGNC Symbols for GJA8 Gene
Previous GeneCards Identifiers for GJA8 Gene
This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
GeneCards Summary for GJA8 Gene
GJA8 (Gap Junction Protein Alpha 8) is a Protein Coding gene. Diseases associated with GJA8 include Cataract 1, Multiple Types and Cataract Microcornea Syndrome. Among its related pathways are Development Slit-Robo signaling and Vesicle-mediated transport. GO annotations related to this gene include channel activity and gap junction channel activity. An important paralog of this gene is GJA3.
UniProtKB/Swiss-Prot for GJA8 Gene
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).