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
- Position
- 147,902,795–147,909,269 (+)
- Aliases
- CAE, CAE1, CTRCT1, CX50, CZP1, MP70
- Ensembl
- ENSG00000121634
- RefSeq RNA
- NM_005267.5, XM_011509417.3, XM_054336002.1
- RefSeq protein
- NP_005258.2, XP_011507719.1, XP_054191977.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
gap junction protein alpha 8
- Symbol
- GJA8
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:147,902,795-147,909,269
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 3857
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/2703
- chromosome
- human chromosome 1
- genomic start
- 147902795
- genomic end
- 147909269
- cytogenetic location
- 1q21.2
- genetic association
- cataract
- expressed in
- viscus
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
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
Excerpted from Wikipedia’s “GJA8” article, available under the CC BY-SA 4.0 licence.