CACNG3

Voltage-dependent calcium channel gamma-3 subunit is a protein that in humans is encoded by the CACNG3 gene.[4][5][6]

CACNG3
Identifiers
AliasesCACNG3, calcium voltage-gated channel auxiliary subunit gamma 3
External IDsOMIM: 606403 MGI: 1859165 HomoloGene: 4767 GeneCards: CACNG3
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16p12.1Start24,255,553 bp[1]
End24,362,801 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10368

54376

Ensembl

ENSG00000006116

ENSMUSG00000066189

UniProt

O60359

Q9JJV5

RefSeq (mRNA)

NM_006539

NM_019430

RefSeq (protein)

NP_006530

NP_062303

Location (UCSC)Chr 16: 24.26 – 24.36 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000006116 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. Black JL 3rd, Lennon VA (May 1999). "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. doi:10.4065/74.4.357. PMID 10221464.
  5. Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD (Nov 1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID 10493829.
  6. "Entrez Gene: CACNG3 calcium channel, voltage-dependent, gamma subunit 3".

Further reading

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


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