Entrez gene ID | | 57165 |
Official gene symbol | | GJC2 |
Full name | | gap junction protein, gamma 2, 47kDa |
Aliases | | ,CX46.6,Cx47,GJA12,HLD2,MGC105119,PMLDAR,SPG44, |
Gene summary | | 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] |
Location | | Chromosome: 1 Locus: 1q42.13 |
Gene position | | 228337553 - 228347527 Map Viewer |
Gene orientation | | plus |
Gene size | | 9975 bp |
Gene sequence |
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OMIM ID | | 608803 |
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