What is the official name of the GJA8 gene?
The official name of this gene is “gap junction protein, alpha 8, 50kDa.”
GJA8 is the gene's official symbol. The GJA8 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the GJA8 gene?
- From NCBI 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]
- From UniProt:
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.
How are changes in the GJA8 gene related to health conditions?
- Genetics Home Reference provides information about 1q21.1 microdeletion, which is associated with changes in the GJA8 gene.
- UniProt provides the following information about the GJA8 gene's known or predicted involvement in human disease.
Cataract 1, multiple types (CTRCT1): An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the GJA8 gene.
- UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the GJA8 gene located?
Cytogenetic Location: 1q21.1
Molecular Location on chromosome 1: base pairs 147,902,819 to 147,909,268
The GJA8 gene is located on the long (q) arm of chromosome 1 at position 21.1.
More precisely, the GJA8 gene is located from base pair 147,902,819 to base pair 147,909,268 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GJA8?
You and your healthcare professional may find the following resources about GJA8 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the GJA8 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding GJA8?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.