Biology:CACNG3

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Voltage-dependent calcium channel gamma-3 subunit is a protein that in humans is encoded by the CACNG3 gene.[1][2][3]

L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This protein is similar to the mouse stargazin protein, mutations in which have been associated with absence seizures, also known as petit-mal or spike-wave seizures. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family. This gene is a candidate gene for a familial infantile convulsive disorder with paroxysmal choreoathetosis.[3]

See also

  • Voltage-dependent calcium channel

References

  1. "Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications". Mayo Clin Proc 74 (4): 357–61. May 1999. doi:10.4065/74.4.357. PMID 10221464. 
  2. "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics 60 (3): 295–308. Nov 1999. doi:10.1006/geno.1999.5927. PMID 10493829. 
  3. 3.0 3.1 "Entrez Gene: CACNG3 calcium channel, voltage-dependent, gamma subunit 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10368. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.