Gene: [19q133/CKM] creatine kinase, muscle form;
|
FUN |
Systematic name: ATP:creatine N-phosphotransferase. The reaction catalyzed: ATP + creatine = ADP + phosphocreatine." |
|
FAG |
There are three other creatine kinase loci. The gene for creatine kinase B (brain form) is mapped to chr 14 (GEM:14q323/CKB), and the genes for mitochondrial creatine kinase, in Chrs 15 and 5 (GEM:15q15/CKMT1; GEM:05q133/CKMT2). The locus in Chr 16 is currently registered as a pseudogene (GEM:16q121/CKBP1)." |
|
LIN |
Loci: GEM:19q133/ERCC1; GEM:19q133/ERCC2.
[1] CKM is tightly linked with ERCC1 is tightly linked with ERCC2 (Smeets-1990)." |
|
MAP |
Loci: GEM:19q131/RYR1; GEM:19q132/APOC2; GEM:19q133/DMPK;
GEM:19q132/APOE; GEM:19q132/APOC1P1; GEM:19q132/APOC1;
GEM:19q133/ERCC2; GEM:19q133/ERCC1; GEM:19q133/DMPK;
GEM:19q132/CYP2A6; GEM:19q134/PRKCG; GEM:19q132/BCL3.
[1] See GEM:19q131/RYR1. [2] See GEM:19q132/APOC1. [3] See GEM:19q134/PRKCG." |
|
PRO |
Probe name: Vector Cloning Site Insert (kb) Reference
[1] pJN2CK-M: pUC12 PstI 1.16 Schweinfest-1985 [2] pHMCKUT: pGEM3 ? 0.135 Perryman-1987" |
|
POL |
Enzyme Alleles in kb/(Popul Freq) (Reference; Probe
number)
(1) TaqI A1= 4.5/(0.25); A2= 4.4/(0.75) (Schweinfest-1985; Nigro-1987; Probe 1; Constant Band= 1.6) TaqI A1= 4.3/(0.24); A2= 4.2/(0.76); (Brunner-1989; Probe ?) (2) NcoI B1= 3.6/(0.33); B2= 2.5/(0.67) (Perryman-1987; Probe 2) NcoI B1= 3.3/(0.375);B2= 2.3+1.0/(0.625) (Brunner-1989; Probe ?)" |
|
REF |
LIN,LOC,POL,ASS "Bailly J &: Hum Genet, 86, 457-462, 1991 LOC,LIN,POL "Brunner HG &: Hum Genet, 81, N4, 308-310, 1989 LIN,LOC,POL,ASS "Gennarelli M &: Hum Genet, 87, 654-656, 1991 LOC,LIN,MAP "MacKenzie &: CCG, 51, (HGM10), 1036-1037, 1989 LIN,LOC "Mohrenweiser &: CCG, 58, (HGM11), 2021, 1991 PRO,LOC,POL "Nigro JM &: AJHG, 40, 115-125, 1987 POL,MOL "Perryman MB &: NAR, 16, 8744, 1988 LOC,LIN,MAP "Roses &: CCG, 51, (HGM10), 1069, 1989 PRO,LOC,POL "Schweinfest &: CCG, 40, (HGM8), 740-741, 1985 LIN,MAF "Smeets H &: AJHG, 46, N3, 492-501, 1990 |
|
KEY |
myo |
|
CLA |
coding, basic |
|
LOC |
19 q13.3 |
|
MIM |
MIM: 123310 |
|
EZN |
ENZYME: 2.7.3.2 |
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