Gene: GJA8

Alternate names for this Gene: CAE|CAE1|CTRCT1|CX50|CZP1|MP70

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.2

Description of this Gene: gap junction protein alpha 8

Type of Gene: protein-coding

rs121434643 in GJA8 gene and Cataract, Zonular Pulverulent 1 PMID 18006672 2008 A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.

PMID 10480374 1999 "Connexin 50 mutation in a family with congenital ""zonular nuclear"" pulverulent cataract of Pakistani origin."

PMID 23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PMID 9497259 1998 "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant ""zonular pulverulent"" cataract, on chromosome 1q."

PMID 14627691 2003 A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

PMID 21174522 2011 Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

PMID 21921990 2011 Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.

PMID 16604058 2006 Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

PMID 11846744 2001 Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.

PMID 16234473 2005 Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.

PMID 21228318 2011 Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.

PMID 25003127 2014 Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.

PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

PMID 18334946 2008 A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

rs864309677 in GJA8 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309703 in GJA8 gene and Multiple congenital anomalies PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

PMID 20806042 2010 A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

PMID 27785597 2017 Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.

rs1553242554 in GJA8 gene and Muscle hypotonia PMID 20806042 2010 A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

PMID 27785597 2017 Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.

PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.