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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.
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]
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.
The disease is caused by mutations affecting the gene represented in this entry.
|||116200 (http://omim.org/entry/116200)||CATARACT 1, MULTIPLE TYPES|
|600897 (http://omim.org/entry/600897)||GAP JUNCTION PROTEIN, ALPHA-8|
Cytogenetic Location: 1q21.1
Molecular Location on chromosome 1: base pairs 147,374,945 to 147,381,395
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 147,374,945 to base pair 147,381,395 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about GJA8 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
calcium ; cataract ; cell ; connexin ; gene ; pH ; protein ; syndrome ; transmembrane
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.