Aliases for GJA8 Gene
- Gap Junction Protein Alpha 8 2 3 5
- Gap Junction Alpha-8 Protein 3 4
- Lens Fiber Protein MP70 3 4
- Connexin 50 2 3
- 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
- Lens Intrinsic Membrane Protein MP70 3
- Gap Junction Protein, Alpha 8, 50kDa 2
- 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 Vesicle-mediated transport and Development Slit-Robo signaling. Gene Ontology (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 Summary for GJA8 Gene
Structural component of eye lens gap junctions (PubMed:18006672, PubMed:19756179). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:18006672, PubMed:19756179).
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).