RecName: Full=Gap junction gamma-3 protein; AltName: Full=Connexin-30. - Protein

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Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report. [Iran J Med Sci. 2021]
Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
Javadikooshesh S, Zaimkohan H, Pourghorban P, Bahramim F, Ebadi N. Iran J Med Sci. 2021 Nov; 46(6):493-497.
Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene. [Int J Med Sci. 2017]
Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene.
Wong SH, Wang WH, Chen PH, Li SY, Yang JJ. Int J Med Sci. 2017; 14(3):246-256. Epub 2017 Feb 23.
Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss. [Cell Biochem Biophys. 2013]
Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss.
Su CC, Li SY, Yen YC, Nian JH, Liang WG, Yang JJ. Cell Biochem Biophys. 2013 Jun; 66(2):277-86.

RefSeq genomic sequence
See the genomic reference sequence for the GJC3 gene (NG_016852.2).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the GJC3 gene.

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Q8NFK1 [Domain Mapping of Disease Mut...]
Q8NFK1
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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PANTHER Classification System
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Protein