GJA8

(redirected from connexin 50)

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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Other negative markers include Desmoglein-3 and Connexin 43 (Cx43) and Connexin 50 (Cx50), both expressed in the corneal epithelium and absent in the basal limbal epithelium [23, 33-35].
Cornea Limbus Basal Suprabasal Basal Suprabasal cells cells cells cells CK3/CK12 ++ ++ - + CK19 - - + - CK5/CK14 +/- - + +/- Vimentine - - ++ + [alpha]-enolase + - ++ +/- Metallothionein - + +/- + Connexin 43 ++ + - + Connexin 50 ++ ++ - - Desmoglein-3 - + - + E-cadherin ++ ++ +/- ++ P-cadherin + - +/- - Integrin [alpha]9 - - ++ +/- Integrin [beta]1 + + + + + Integrin [alpha]6 ++ + +/- + ABCG2 - - ++ - ABCB5 - - + - E-cadherin ++ ++ +/- ++ P-cadherin +/- - +/- - [DELTA]Np63[alpha] - - ++ +/- C/EBP[delta] - - + - Bmi1 - - + - Notch 1 - - + - NGF-R TrkA + +/- + +/-
The deletion, concerned with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 (Cx50), was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes.
We identified a novel c.426_440delGCTGGAGGGGACCCT in GJA8 that segregates with the disease phenotype in the family and evaluated potential pathogenicity of the deletion and modeled the functional impacts of the deletion on the structure of the connexin 50 (Cx50) protein.
Loss of function and impaired degradation of a cataract-associated mutant connexin 50. Eur J Cell Biol 2003; 82 : 209-21.