GJA8
Sign in to saveAlso known as CAE, CAE1, CTRCT1, CX50, CZP1, MP70, gap junction protein alpha 8
Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.
Gene data
GJA8- Name
- gap junction protein alpha 8
- Type
- protein-coding
- Aliases
- CAE, CAE1, CTRCT1, CX50, CZP1, MP70
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].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 3857
- exact match
- identifiers.org/ncbigene/2703
- genomic start
- 147902795
- genomic end
- 147909269
- cytogenetic location
- 1q21.2
Sources (4)
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Article
4 sectionsContents
- Related gene problems
- Interactions
- References
- Further reading
Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.
==Related gene problems== 1q21.1 deletion syndrome 1q21.1 duplication syndrome microphthalmia and other vision pathologies