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Official Full Name: gap junction protein gamma 2
Also known as: Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; LMPHM3; PMLDAR
This gene encodes a gap junction protein. Gap connexins are members of a large family of homologous connexins, including 4 transmembrane domains, 2 extracellular domains and 3 cytoplasmic domains. This gene plays a key role in central myelination and peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive disorders1.