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Gene : CKMT2 Homo sapiens

Name  ? creatine kinase, mitochondrial 2 Cytological Location  5q14.1
Brief Description  creatine kinase, mitochondrial 2
Description  Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc003khd.5,
  • CKMT2,
  • SMTCK,
  • creatine kinase, mitochondrial 2 (sarcomeric),
  • NM_001825,
  • OTTHUMG00000119013,
  • SMTCK,
  • HGNC:1996
  • identifiers:
  • 1160,
  • ENSG00000131730,
  • CKMT2

Genome feature

Region: gene ? Length: 33079  
Location: 5:81233320-81266398 Cyto location: 5q14.1


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Proteins

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SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

3753 SN Ps

5 Cross References

16 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results