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Gap junction gamma-2 protein

The GJC2 gene encodes a gap junction protein. Mutations cause autosomal dominant hereditary lymphedema type 1c and recessive spastic paraplegia type 44 and hypomyelinating Leukodystrophy 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hypomyelinating Leukodystrophy 2
GJC2
Hereditary lymphedema type 1c
GJC2
Autosomal recessive spastic paraplegia type 44
GJC2

References:

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
20.

Wikipedia article

Wikipedia EN (GJC2) external link
Update: Aug. 14, 2020
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