GJC3
| GJC3 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 7: 99.92 – 99.93 Mb | Chr 5: 137.95 – 137.96 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/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
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000176402 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056966 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: gap junction protein".
- PMID 12151525.
- PMID 26763782.
Further reading
- Hong HM, Yang JJ, Su CC, Chang JY, Li TC, Li SY (February 2010). "A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss". Human Genetics. 127 (2): 191–9. S2CID 7892178.
- Ramchander PV, Panda KC, Panda AK (August 2010). "Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India". Genetic Testing and Molecular Biomarkers. 14 (4): 539–41. PMID 20632892.
- Kleopa KA, Orthmann JL, Enriquez A, Paul DL, Scherer SS (September 2004). "Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes". Glia. 47 (4): 346–57. S2CID 9498256.
- Yang JJ, Wang WH, Lin YC, Weng HH, Yang JT, Hwang CF, Wu CM, Li SY (September 2010). "Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation". Human Genetics. 128 (3): 303–13. S2CID 1423816.
- Söhl G, Nielsen PA, Eiberger J, Willecke K (2003). "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues". Cell Communication & Adhesion. 10 (1): 27–36. S2CID 225894.
- Wang WH, Yang JJ, Lin YC, Yang JT, Chan CH, Li SY (2010). "Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method". Audiology and Neuro-Otology. 15 (2): 81–7. S2CID 24962158.
- 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. PMID 12151525.
- Sargiannidou I, Ahn M, Enriquez AD, Peinado A, Reynolds R, Abrams C, Scherer SS, Kleopa KA (May 2008). "Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants". Neurobiology of Disease. 30 (2): 221–33. PMID 18353664.
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