Gene: [11p155/KCNQ1] potassium voltage-gated channel, KQT-like subfamily, member 1; potassium voltage-gated channel, shaker-related subfamily, member 9; potassium voltage-gated channel, shaker-related subfamily, member 8; long (electrocardiographic) QT syndrome 1, Ward-Romano syndrome; [KCNA9 KCNA8 ]


CAG

There are four genetic forms of the long QT syndrome: LQT1, LQT2 (GEM:07q3/LQT2), LQT3 (GEM:03p21/SCN5A), and LQT4 (GEM:04q2/LQT4)."

REL

GEM:20q133/KCNQ2; GEM:08q24/KCNQ3.

REF

HET "Curran M &: J Clin Invest, 92, 799-803, 1993
HET,LIN,LOC "Jiang C &: Nature Genet, 8, 141-147, 1994
LIN,LOC,HET "Kainulainen K &: Hum Genet, 96, N4, 395-400, 1995
LIN,LOC "Keating M &: AJHG, 49, 1335-1339, 1991a
LIN,LOC "Keating M &: Science, 252, 704-706, 1991b
HET "Kerem B &: AJHG, 51, (Suppl), A192, 1992
HET "Ohzeki T &: J Int Med, 234, 227-229, 1993
LIN,LOC "Roy N &: Nature Genet, 8, N2, 113-114, 1994
LIN,LOC "Russell M &: AJHG, 57, N2, 503-507, 1995
HET "Tanaka T &: Hum Genet, 94, 380-384, 1994
CLO,SEQ,MUT "Wang Q &: Nature Genet, 12, 17-23, 1996

KEY

neu, mem, ion, sign, card

CLA

coding, basic

LOC

11 p15.5

MIM

MIM: 192500

SYN

KCNA9 KCNA8

鸯铗痂蝈 蜞赕:

  • KCNQ1 缅 赅腓邂钽 赅磬豚 皴痄鲟