Gene: GJC2

Alternate names for this Gene: CX46.6|Cx47|GJA12|HLD2|LMPH1C|LMPHM3|PMLDAR|SPG44

Gene Summary: This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.13

Description of this Gene: gap junction protein gamma 2

Type of Gene: protein-coding

rs1553262429 in GJC2 gene and Dysmorphic features PMID 20537300 2010 GJC2 missense mutations cause human lymphedema.

PMID 22610664 2012 A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

PMID 19056803 2009 Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

PMID 23621851 2013 The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

PMID 21266381 2011 Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

rs267606846 in GJC2 gene and LYMPHATIC MALFORMATION 3 PMID 20537300 2010 GJC2 missense mutations cause human lymphedema.

rs587776888 in GJC2 gene and Leukodystrophy, Hypomyelinating, 2 PMID 20695017 2010 Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

PMID 27780564 2016 Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

rs1553262429 in GJC2 gene and Movement Disorders PMID 23621851 2013 The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

PMID 22610664 2012 A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

PMID 21266381 2011 Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

PMID 20537300 2010 GJC2 missense mutations cause human lymphedema.

PMID 19056803 2009 Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

rs75469429 in GJC2 gene and SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder) PMID 19056803 2009 Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

rs1553262438 in GJC2 gene and Spastic Paraplegia PMID 20513814 2010 Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.

PMID 18094336 2008 GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

PMID 20695017 2010 Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

PMID 21959080 2011 Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

PMID 23142375 2013 Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

PMID 21246605 2012 Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.