Gap Junction Protein, Beta-6

Alternative Names

GJB6
Connexin 30
CX30

Length

10,434 bases

No. of Exons

Protein Name

Gap junction beta-6 protein

Molecular Mass

30387 Da

Amino Acid Count

261

Genomic Location

chr13:20,221,962-20,232,395

Gene Map Locus

13q12.11

Description

The GJB6 gene codes for the Connexin 30 protein, a gap junction protein expressed in the brain, inner ear, skin, hair follicles, and nail beds.

Mutations in the GJB6 gene have been implicated in several forms of deafness as well as in hidrotic ectodermal dysplasia.

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_006783.4:c.31G>C	Lebanon	chr13:20223450	Pathogenic	Pathogenic	Clouston Syndrome	NG_008323.1:g.13946G>C ; NM_006783.4:c.31G>C; NP_006774.2:p.Gly11Arg	104894415	5544

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External Links

https://ghr.nlm.nih.gov/gene/GJB6 https://www.genecards.org/cgi-bin/carddisp.pl?gene=GJB6 https://www.ncbi.nlm.nih.gov/gene/10804

Contributors

Pratibha Nair: 19.03.2019

Edit History

Pratibha Nair: 19.03.2019

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