[The effect of CACNA1H gene G773D mutation on calcium channel function].
OBJECTIVE
To study the effect of CACNA1H gene mutation G773D on calcium channel function.


METHODS
By the overlap extension PCR we introduced G773D mutation into a human Cav3.2acDNA for constructing the mutant. And then using whole cell clamp technique, we studied the alterations of channel behavior in transfected HEK-293 cells.


RESULTS
There were no difference in kinetics of activation and inactivation of calcium channel between wild type and mutant. However comparing with the wild-type Cav3.2 channel, G773D mutant could increase the calcium current density significantly.


CONCLUSIONS
CACNA1H gene G773D mutation is able to increase calcium current and neuronal excitability.
Wang
Ju-li
JL
Department of Pediatrics, First Hospital, Peking University, Bejing 100034, P. R. China.
Han
Chong-yang
CY
Jing
Yu-hong
YH
Chen
Yu-cai
YC
Feng
Nan
N
Lu
Jian-jun
JJ
Zhang
Yue-hua
YH
Pan
Hong
H
Wu
Hu-sheng
HS
Xu
Ke-ming
KM
Jiang
Yu-wu
YW
Liang
Jian-min
JM
Wang
Ling
L
Wang
Xiao-liang
XL
Shen
Yan
Y
Wu
Xi-ru
XR
D001483:Base Sequence; D020747:Calcium Channels, T-Type / Q000235:genetics* / Q000502:physiology*; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004832:Epilepsy, Absence / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018408:Patch-Clamp Techniques; D020641:Polymorphism, Single Nucleotide
C479952:CACNA1H protein, human; D020747:Calcium Channels, T-Type