Protein Name gap junction protein gamma 2
Organism Homo sapiens
Gene ID 57165
Gene Symbol

GJC2

UniProt Q5T442 (CXG2_HUMAN), A0A654IBV7 (A0A654IBV7_HUMAN)
Relationships Total Number of functionally related compound(s) : 9
Total Number of Articles : 6
Description

gap junction protein gamma 2

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, Jul 2008]

synonyms
  • gap junction gamma-2 protein
  • connexin-46.6
  • connexin-47
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Properties