Gene: [07q/CACNA2] calcium channel, voltage-dependent, L type, alpha 2/delta subunit; calcium channel, L type, alpha 2 polypeptide; malignant hyperthermia susceptibility 3 (MHS3; MIM:154276); [CACNL2A MHS3 ]
COM | Powers-1994 assigned the CACNA2 gene to Chr 7q21-22 by analysis of a panel of human/rodent somatic cell hybrids (GDB:G00-132-010 points this location) whereas Iles-1994 mapped the CACNL2A gene to Chr 7q11.23-21.1 by fluorescence in situ hybridization [GDB:G00-132-010:LOC='07 q21-22']." |
LIN | In MHS families linked to neither Chr 17 (GEM:17q/MHS2) nor Chr 19 (GEM:19q131/RYR1), Iles-1994 found linkage with no recombination to markers flanking the CACNL2A locus on Chr 7." |
REF | CLO,LOC,LIN,PAT "Iles DE &: Hum Mol Genet, 3, 969-975,
1994 CLO,LOC "Powers PA &: Genomics, 19, 192-193, 1994 |
SWI | SWISSPROT: P54289 |
KEY | sign, ion, neu, mem |
CLA | coding, basic |
LOC | 07 q11.23-21.1 |
MIM | MIM: 114204 |
SYN | CACNL2A MHS3 |
Ссылки:
- 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); epi
- кальциевые каналы L-типа: субъединица альфа-2 HUGEN
- кальциевые каналы L-типа: субъединица дельта HUGEN
