Alternative titles; symbols
HGNC Approved Gene Symbol: CKMT2
Cytogenetic location: 5q14.1 Genomic coordinates (GRCh38): 5:81,233,322-81,266,398 (from NCBI)
Creatine kinase (EC 2.7.3.2) isoenzymes such as CKMT2 are crucial to energy metabolism, particularly in tissues with high energy requirements. Nuclear genes encode 4 known CK subunits: cytoplasmic muscle (CKM; 123310), cytoplasmic brain (CKB; 123280), ubiquitous mitochondrial (CKMT1; 123290), and sarcomeric mitochondrial (CKMT2) (summary by Klein et al., 1991).
Klein et al. (1991) reported the isolation and characterization of the CKMT2 gene.
Klein et al. (1991) determined that the CKMT2 gene contains 11 exons and encompasses more than 37 kb. The sites of exon localization in the CKMT2 coding region and their precise sizes are identical to those of the CKMT1 gene. The translation start codon is in the third exon and lies 17 kb from the transcription start site.
Klein et al. (1991) assigned the CKMT2 gene to chromosome 5 by analysis of human/hamster somatic cell hybrid DNAs. The CKMTS gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and that may be essential for the coordinated activation of these genes during mitochondrial biogenesis.
Richard et al. (1993) assigned the CKMT2 gene to chromosome 5q13.3 by in situ hybridization.
Klein, S. C., Haas, R. C., Perryman, M. B., Billadello, J. J., Strauss, A. W. Regulatory element analysis and structural characterization of the human sarcomeric mitochondrial creatine kinase gene. J. Biol. Chem. 266: 18058-18065, 1991. [PubMed: 1917943]
Richard, I., Devaud, C., Cherif, D., Cohen, D., Beckmann, J. S. The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2), maps to chromosome 5q13.3. Genomics 18: 134-136, 1993. [PubMed: 8276398] [Full Text: https://doi.org/10.1006/geno.1993.1437]