Species Human Entrez 57165 | Human Mouse Ensembl ENSG00000198835 | |
Aliases GJC2, CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44, gap junction protein gamma 2 External IDs MGI: 2153060 HomoloGene: 10715 GeneCards: GJC2 | ||
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.
Contents
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.
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
GJC2 Wikipedia(Text) CC BY-SA