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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