| UniProt Protein Function: | GJA8: 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. A connexon is composed of a hexamer of connexins. This particular connexin only forms junctional channels. Eye lens. Belongs to the connexin family. Alpha-type (group II) subfamily.Protein type: Membrane protein, integral; Channel, misc.; Membrane protein, multi-passChromosomal Location of Human Ortholog: 1q21.1Cellular Component: integral to plasma membraneMolecular Function: channel activityBiological Process: transport; visual perceptionDisease: Cataract 1, Multiple Types; Chromosome 1q21.1 Deletion Syndrome, 1.35-mb |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | P48165 |
| NCBI GenInfo Identifier: | 13124697 |
| NCBI Gene ID: | 2703 |
| NCBI Accession: | P48165.3 |
| UniProt Secondary Accession: | P48165,Q5VVN9, Q9NP25, A7L5M5 |
| UniProt Related Accession: | P48165 |
| Molecular Weight: | 48,229 Da |
| NCBI Full Name: | Gap junction alpha-8 protein |
| NCBI Synonym Full Names: | gap junction protein alpha 8 |
| NCBI Official Symbol: | GJA8 |
| NCBI Official Synonym Symbols: | CAE; CAE1; CX50; CZP1; MP70; CTRCT1 |
| NCBI Protein Information: | gap junction alpha-8 protein |
| UniProt Protein Name: | Gap junction alpha-8 protein |
| UniProt Synonym Protein Names: | Connexin-50; Cx50; Lens fiber protein MP70 |
| Protein Family: | Gap junction alpha-8 protein |
| UniProt Gene Name: | GJA8 |
| UniProt Entry Name: | CXA8_HUMAN |
