- Source: 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.
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
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
Kata Kunci Pencarian:
- Daftar gen penyandi protein pada manusia/2
- GJC2
- Aquaporin
- Membrane transport protein
- Voltage-gated sodium channel
- List of human protein-coding genes 2
- Hereditary spastic paraplegia
- Ion channel
- Voltage-gated calcium channel
- Cystic fibrosis transmembrane conductance regulator
- TRPV1
