Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Gap junction gamma-2 Protein

Das GJC2-Gen kodiert ein Protein des Zell-Zell-Kanals (gap junction). Mutationen führen zu autosomal dominantem hereditärem Lymphödem Typ 1c und zur rezessiven spastische Paraplegie 44 und hypomyelinisierte Leukodystrophy 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hypomyelinisierte Leukodystrophy 2
GJC2
Hereditäres Lymphödem Typ 1c
GJC2
Autosomal rezessive spastische Paraplegie 44
GJC2

Referenzen:

1.

Wolf NI et al. (2007) Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

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2.

Combes P et al. (2012) Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.

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3.

Osaka H et al. (2010) Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

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4.

Diekmann S et al. (2010) Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

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5.

Orthmann-Murphy JL et al. (2007) Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.

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6.

Menichella DM et al. (2003) Connexins are critical for normal myelination in the CNS.

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7.

Odermatt B et al. (2003) Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.

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8.

Nezu A et al. () Pelizaeus-Merzbacher-like disease: female case report.

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9.

Orthmann-Murphy JL et al. (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

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10.

Ostergaard P et al. (2011) Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

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11.

Ferrell RE et al. (2010) GJC2 missense mutations cause human lymphedema.

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12.

Gotoh L et al. (2014) GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

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13.

Biancheri R et al. (2013) Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

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14.

Henneke M et al. (2008) GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

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15.

Salviati L et al. (2007) A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

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16.

Uhlenberg B et al. (2004) Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

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17.

Orphanet article

Orphanet ID 122110 external link
18.

NCBI article

NCBI 57165 external link
19.

OMIM.ORG article

Omim 608803 external link
Update: 14. August 2020
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