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

鸯铗痂蝈 蜞赕:

  • Gene: [11q13/CAPN1] calpain, large polypeptide L1 (catalytic); calcium-activated neutral proteinase Mu;
  • Gene: [17q1/LGMD2G] limb girdle muscular dystrophy 2G (autosomal recessive);
  • HUGEN-赅腼噼