GJC2
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.[1]
Function
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.[1]
Clinical significance
Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.[1]
Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema.
References
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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