S. Taviaux et al., ASSIGNMENT OF HUMAN GENES FOR BETA-2 AND BETA-4 SUBUNITS VOLTAGE-DEPENDENT CA2-Q23( CHANNELS TO CHROMOSOMES 10P12 AND 2Q22), Human genetics, 100(2), 1997, pp. 151-154
We have used human beta 2 and beta 4 cDNA probes to map the genes enco
ding two isoforms of the regulatory beta subunit of voltage-activated
Ca2+ channels, viz. CACNB2 (beta 2) and CACNB4 (beta 4), to human chro
mosomes 10p12 and 2q22-q23, respectively, by fluorescence in situ hybr
idization. The gene encoding the beta 2 protein, first described as a
Lambert-Eaton myasthenic syndrome (LEMS) antigen in humans, is found c
lose to a region that undergoes chromosome rearrangements in small cel
l lung cancer, which occurs in association with LEMS. CACNB2 (beta 2)
and CACNB4 (beta 4) genes are members of the ion-channel gene superfam
ily and it should now be possible to examine their loci by linkage ana
lysis of ion-channel-related disorders. To date, no such disease-relat
ed gene has been assigned to 10p12 and 2q22-q23.