Gene: [19p131/CACNA1A] calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; calcium channel, L type, alpha 1 polypeptide, isoform 4 (neuroendocrine); migraine, hemiplegic 1 (MIM:141500); spinocerebellar ataxia 6 (MIM:183086); episodic ataxia, type 2 (EA2; nystagmus-associated; MIM:108500); familial periodic cerebellar ataxia (vestibulocerebellar; MIM:108500); paroxysmal cerebellar ataxia, acetazolamide-responsive, hereditary (APCA; MIM:108500); [CACNL1A4 MHP ]
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COM |
Diriong-1995 assigned the CACNA1A gene to Chr 19p13 by fluorescence in situ hybridization. Ishikawa-1997 refined the location to Chr 19p13.1." |
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HET |
[1] Another locus for hemiplegic migraine is not yet mapped: GEM:01q2/MHP2.
[2] For episodic ataxia type 1 see GEM:12p13/KCNA1." |
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REL |
GEM:09q34/CACNA1B; GEM:12p13/CACNA1C; GEM:03p21/CACNA1D; GEM:01q/CACNA1E; GEM:0Xp112/CACNA1F; GEM:01q32/CACNA1S; GEM:07q/CACNA2; GEM:17q2/CACNB1; GEM:10p12/CACNB2; GEM:12q13/CACNB3; GEM:02q2/CACNB4; GEM:17q24/CACNG." |
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REF |
LOC "Diriong S &: Genomics, 30, N3, 605-609, 1995 LIN,LOC "Ishikawa K &: AJHG, 61, N2, 336-346, 1997 PAT,LOC,LIN,HET "Joutel A &: AJHG, 55, N6, 1166-1172, 1994 PAT,LOC,LIN "Joutel A &: Nature Genet, 5, 40-45, 1993 IDN,LOC,LIN "Kramer PL &: AJHG, 57, 182-185, 1995 IDN,LOC,LIN "Kramer PL &: AJHG, 55, A191-191, 1994 LIN,LOC "Litt M &: AJHG, 55, 702-709, 1994 LIN,HET "Lopes-Cendes I &: Genomics, 21, 270-274, 1994 MUT "Matsuyama Z &: Hum Mol Genet, 6, N8, 1283-1287, 1997 MUT,POL "Ophoff RA &: Cell, 87, 543-552, 1996 PAT,LOC,LIN,HET "Ophoff RA &: Genomics, 22, 21-26, 1994 MUT,POL "Riess O &: Hum Mol Genet, 6, 1289-1293, 1997 LIN,HET "Stevanin G &: AJHG, 54, 11-20, 1994 LOC,LIN "Teh BT &: AJHG, 56, 1443-1449, 1995 FUN "Thibault O, Landfield PW: Science, 272, N5264, 1017-1020, 1996 LIN,HET "Twells R &: Hum Mol Genet, 3, 177-180, 1994 LOC,LIN "Vahedi K &: Ann Neurol, 37, 289-293, 1995 LOC,LIN "von Brederlow B &: Hum Mol Genet, 4, 279-284, 1995 MUT "Zhuchenko O &: Nature Genet, 15, 62-69, 1997 |
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KEY |
sign, ion, neu, mem, tri |
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CLA |
coding, basic |
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LOC |
19 p13.1 |
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MIM |
MIM: 601011 |
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SYN |
CACNL1A4 MHP |
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