GJC3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
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

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

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

References

Further reading









Creative Commons License