GJC2( Human )

Entrez Gene 57165 Entrez Gene 57165
gap junction protein gamma 2

Alias

CX46.6|Cx47|GJA12|HLD2|LMPH1C|PMLDAR|SPG44

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. [provided by RefSeq, Jul 2008].

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