Alternative titles; symbols
HGNC Approved Gene Symbol: CACNG1
Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:67,044,554-67,056,797 (from NCBI)
Powers et al. (1993) cloned human CACNG1, which they designated CACNLG, from a fetal skeletal muscle cDNA library. The deduced CACNLG protein contains 222 amino acids. RT-PCR analysis detected CACNLG transcripts in human and mouse skeletal muscle, but not in human brain or cardiac muscle or mouse brain, cardiac muscle, spleen, kidney, liver, or stomach.
Powers et al. (1993) determined that the CACNLG gene has 4 exons spanning 12.5 kb.
Powers et al. (1993) mapped the CACNLG gene to chromosome 17q23 in the same region as the CACNB1 gene (114207). They identified a polymorphic dinucleotide repeat within the CACNLG gene.
Iles et al. (1993) estimated that the CACNLG locus is about 19 cM distal to the SCN4A (603967) and GH1 (139250) loci, which in turn are about 32 cM telomeric of the HOX2B locus (142961), on chromosome 17. Iles et al. (1993) mapped the CACNLG gene to 17q24 by in situ hybridization. They also identified a polymorphic repetitive DNA sequence in the gene.
Exclusion Studies
Iles et al. (1993) excluded the CACNLG gene as the site of the mutation in a considerable number of families with malignant hyperthermia susceptibility in which there was no linkage to chromosome 19.
Iles, D. E., Segers, B., Sengers, R. C. A., Monsieurs, K., Heytens, L., Halsall, P. J., Hopkins, P. M., Ellis, F. R., Hall-Curran, J. L., Stewart, A. D., Wieringa, B. Genetic mapping of the beta-1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Hum. Molec. Genet. 2: 863-868, 1993. [PubMed: 8395940] [Full Text: https://doi.org/10.1093/hmg/2.7.863]
Iles, D. E., Segers, B., Weghuis, D. O., Suikerbuijk, R., Wieringa, B. Localization of the gamma-subunit of the skeletal muscle L-type voltage-dependent calcium channel gene (CACNLG) to human chromosome band 17q24 by in situ hybridization and identification of a polymorphic repetitive DNA sequence at the gene locus. Cytogenet. Cell Genet. 64: 227-230, 1993. [PubMed: 8404045] [Full Text: https://doi.org/10.1159/000133583]
Powers, P. A., Liu, S., Hogan, K., Gregg, R. G. Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca(2+) channel (CACNLG), cDNA sequence, gene structure, and chromosomal location. J. Biol. Chem. 268: 9275-9279, 1993. [PubMed: 8387489]