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.
The skeletal muscle dihydropyridine receptor consists of five subunits and fulfils an essential role in excitation-contraction coupling. A genomic clone for the human gamma subunit was used to map the gene (CACNLG) to chromosome band 17q24 by in situ hybridization. Contained within the gene is a 416-bp polymorphic repetitive DNA element that is potentially useful as a genetic marker.
Iles
D E
DE
Department of Cell Biology and Histology, Faculty of Medical Sciences, Catholic University of Nijmegen, The Netherlands.
Segers
B
B
Weghuis
D O
DO
Suikerbuijk
R
R
Wieringa
B
B
D000595:Amino Acid Sequence; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004247:DNA; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism*; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA
D015220:Calcium Channels; D004247:DNA