GJC3

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Gap junction protein, gamma 3, 30.2kDa
Identifiers
Symbols GJC3 ; CX29; CX30.2; CX31.3; GJE1
External IDs OMIM611925 MGI2153041 HomoloGene15399 IUPHAR: Cx30.2 GeneCards: GJC3 Gene
Orthologs
Species Human Mouse
Entrez 349149 118446
Ensembl ENSG00000176402 ENSMUSG00000056966
UniProt Q8NFK1 Q921C1
RefSeq (mRNA) NM_181538 NM_080450
RefSeq (protein) NP_853516 NP_536698
Location (UCSC) Chr 7:
99.52 – 99.53 Mb
Chr 5:
137.95 – 137.96 Mb
PubMed search [1] [2]

Gap junction gamma-3, also known as connexin-29 (Cx29) or gap junction epsilon-1 (GJE1), is a protein that in humans is encoded by the GJC3 gene.[1]

GJC3 is a conexin.

Function[edit]

This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells.[1]

Clinical significance[edit]

Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[1]

References[edit]

Further reading[edit]