GJA8 gap junction protein alpha 8

Gene ID: 2703, updated on 16-Apr-2024
Gene type: protein coding
Also known as: CAE; CAE1; CX50; CZP1; MP70; CTRCT1

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. [provided by RefSeq, Dec 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Cataract 1 multiple types MedGen: C1861828OMIM: 116200GeneReviews: Not available	See labs
Chromosome 1q21.1 deletion syndrome MedGen: C2675897OMIM: 612474GeneReviews: 1q21.1 Recurrent Microdeletion	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2012-02-23) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2012-02-23) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 1q21.2

Sequence:: Chromosome: 1; NC_000001.11 (147902795..147914486)

Total number of exons:: 3

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GJA8 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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