GJC3

From WikiProjectMed
Jump to navigation Jump to search
GJC3
Identifiers
AliasesGJC3, CX29, CX30.2, CX31.3, GJE1, gap junction protein gamma 3
External IDsOMIM: 611925 MGI: 2153041 HomoloGene: 15399 GeneCards: GJC3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_181538

NM_080450

RefSeq (protein)

NP_853516

NP_536698

Location (UCSC)Chr 7: 99.92 – 99.93 MbChr 5: 137.95 – 137.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

GJC3 is a conexin.

Function

This gene encodes a gap junction protein. The encoded protein is known as a connexin, most of which form gap junctions that provide direct connections between neighboring cells.[5] However, Cx29, which is highly expressed in myelin-forming glial cells of the CNS and PNS, has not been documented to form gap junctions in any cell type. In both PNS and CNS myelinated axons, Cx29 is precisely colocalized with Kv1.2 voltage-gated K+ channels, where both proteins are concentrated in the juxtaparanode and along the inner mesaxon.[6] By freeze-fracture immunogold labeling electron microscopy, Cx29 is identified in abundant "rosettes" of transmembrane protein particles in the innermost layer of myelin, directly apposed to equally abundant immunogold-labeled Kv1.1 potassium channels, both in the juxtaparanodal axolemma and along the inner mesaxon.[7] A role in K+ handling during saltatory conduction is implied but not yet demonstrated.

Clinical significance

Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000176402 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056966 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: gap junction protein".
  6. ^ Altevogt BM, Kleopa KA, Postma FR, Scherer SS, Paul DL (August 2002). "Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems". The Journal of Neuroscience. 22 (15): 6458–70. doi:10.1523/JNEUROSCI.22-15-06458.2002. PMC 6758161. PMID 12151525.
  7. ^ Rash JE, Vanderpool KG, Yasumura T, Hickman J, Beatty JT, Nagy JI (April 2016). "KV1 channels identified in rodent myelinated axons, linked to Cx29 in innermost myelin: support for electrically active myelin in mammalian saltatory conduction". Journal of Neurophysiology. 115 (4): 1836–59. doi:10.1152/jn.01077.2015. PMC 4869480. PMID 26763782.

Further reading