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.
Function
This gene encodes a
gap junction
Gap junctions are specialized intercellular connections between a multitude of animal cell-types. They directly connect the cytoplasm of two cells, which allows various molecules, ions and electrical impulses to directly pass through a regulate ...
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.
Clinical significance
Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive
Pelizaeus-Merzbacher-like disease-1.
Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema.
References
Further reading
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Integral membrane proteins
{{gene-1-stub
Connexins