Gene: [15q15/CAPN3] calpain, large polypeptide L3 (catalytic); calcium-activated neutral proteinase (protein p94); limb girdle muscular dystrophy 2A (autosomal recessive; MIM:253600); Leyden-Moebius muscular dystrophy (pelvofemoral; MIM:253600);
CAG | [1] Six
autosomal recessive forms of limb girdle muscular dystrophy are registered:
2A, 2B (GEM:02p13/LGMD2B), 2C (GEM:13q12/SGCG), 2D (GEM:17q21/SGCA), 2E (GEM:04q12/SGCB), and 2F (GEM:05q33/SGCD). [2] On autosomal dominant forms of limb girdle muscular dystrophy see GEM:05q31/LGMD1A." |
REF | LOC "Allamand V &:
AJHG, 56, 1417-1430, 1995 LOC,LIN "Beckmann JS &: CCG, 58, (HGM11), 1991, 1991 MAP,LOC "Chiannilkulchai N &: Hum Mol Genet, 4, N4, 717-725, 1995 MAP "Fougerousse F &: Hum Mol Genet, 3, 285-293, 1994 PRO,MOP,LOC,FAG "Ohno S &: CCG, 51, (HGM10), 1054-1055, 1989 LOC,MOU "Richard I, Beckmann JS: Mammal Genome, 7, 377-379, 1996 MUT "Richard I &: Cell, 81, 27-40, 1995 LOC,LIN "Young K &: Genomics, 13, 1370-1371, 1992 LOC,LIN "Young K &: CCG, 58, (HGM11), 1996, 1991 |
SWI | SWISSPROT: P20807 |
KEY | pep, myo, neu |
CLA | coding, basic |
LOC | 15 q15 |
MIM | MIM: 114240 |
EZN | ENZYME: 3.4.22.17 |
