GeneID: 70



Names

Common Name: GJC1 Type: Gene
Chromosome: 17 (NC_000017.11) Locus: N/A
HUGO Symbol: GJC1 Full Name: gap junction protein gamma 1
Exons: 3 Introns: 2

Description:
The encoded protein is a member of the connexin family of proteins that form gap junction channels. Gap junctions facilitate the exchange of small molecules, such as ions, intracellular metabolites and messenger molecules between cells, and play an important role in developmental regulation and signal transduction pathways. Each connexin consists of highly conserved extracellular domains as well as divergent intracellular domains that confer each member with unique properties. The encoded protein is mainly expressed in the cardiac conductive system and in certain neurons of the retina and brain. Polymorphisms in this gene associated with HbF levels in sickle cell patients. Alternatively spliced transcript variants encoding the same isoform have been described.

Synonyms: CX45 , GJA7

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Kanter HL, Saffitz JE, Beyer EC, Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45., J. Mol. Cell. Cardiol. , 26(7), 861-8, 1994 PubMed
  2. Sosinsky GE, Nicholson BJ, Structural organization of gap junction channels., Biochim. Biophys. Acta , 1711(2), 99-125, 2005 PubMed
  3. Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016 PubMed
Created on 2016-04-26 13:01:16, Last reviewed on 2016-04-26 13:02:33 (Show full history)


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