Gene: [01q32/CACNA1S] calcium channel, voltage-dependent, L type, alpha 1S subunit; calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle); malignant hyperthermia susceptibility 5 (MHS5; MIM:601887); hypokalemic periodic paralysis 1 (HOKPP; MIM:170400); [CACNL1A3 ]

MAP

 See GEM:01q3/RP12:MAP.

CAG

 About hypokalemic periodic paralysis 2 see GEM:00.0/HOKPP2.

REF

 MUT,PAT "Boerman RH &: J Med Genet, 32, 44-47, 1995
PAT,LIN,ASS "Buruma OJS &: Arch Neurol, 42, N1, 28-31, 1985
LOC "Drouet B &: Mammal Genome, 4, 499-503, 1993
MUT,PAT "Elbaz A &: AJHG, 56, N2, 374-380, 1995
LOC "Fontaine B &: Nature Genet, 6, 267-272, 1994
LOC "Gregg RG &: Genomics, 15, 107-112, 1993
CLO,SEQ,GEN "Hogan K &: Genomics, 31, N3, 392-394, 1996
LOC "Iles DE &: Genomics, 19, 561-563, 1994
MUT,PAT "Jurkat-Rott K &: Hum Mol Genet, 3, 1415-1419, 1994
MUT,PAT "Monnier N &: AJHG, 60, N6, 1316-1325, 1997
MUT,PAT "Ptacek LJ &: Cell, 77, 863-868, 1994
LIN,LOC "Robinson RL &: Hum Mol Genet, 6, 953-961, 1997
PAT "Rudel R &: Muscle Nerve, 7, N2, 110-120, 1984
MUT,PAT "Sillen A &: Am J Med Genet, 69, N1, 102-106, 1997
LIN,LOC "van Soest S &: CCG, 73, N1-2, 81-85, 1996

KEY

 sign, ion, neu, card, mem, myo

CLA

 coding, basic

LOC

 01 q32

MIM

 MIM: 114208

SYN

 CACNL1A3

Ссылки: