GJA8


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GJA8

A gene on chromosome 1q21.1 that encodes a calcium and pH-dependent transmembrane connexin protein required for lens growth and maturation of lens-fibre cells. 

Molecular pathology
GJA8 mutations have been linked to zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome.
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Substitution of negatively charged amino acid with neutral interrupts its interaction with neighboring molecules but have no inauspicious effect on the overall structure of mutated GJA8 protein.
Energetically mutated GJA8 is immensely stable in comparison to wild type GJA8 with an energy difference of -2.
Mutational screening of GJA8 gene showed substitution of glutamic acid to glutamine at codon position 368 in the coding region of GJA8 exon 2, which is a novel mutation.
Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.
A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.
Mutation screening and genotype phenotype correlation of [alpha]-crystallin, g-crystallin, and GJA8 gene in congenital cataract.
Third, the cataract morphology of the affected members and inheritance pattern of the cataracts in the family were compatible with those of cataract caused by GJA8 mutations.
To date, about 28 GJA8 mutations have been reported in CC patients [Figure 1]d.
In this study, by combined NGS and targeted genomic enrichment technology, we identified a novel 15 deletion in a highly conserved region of CL domain of the GJA8 gene associated with cataracts in a three-generation Chinese family with ADCC (mutations have never reported in CL domain before).