CKB (gene)

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Creatine kinase, brain
3b6r.png
Crystal structure of Human Brain-type Creatine Kinase with ADP and creatine. PDB 3b6r.[1]
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CKB ; B-CK; CKBB
External IDs OMIM123280 HomoloGene37530 ChEMBL: 6049 GeneCards: CKB Gene
EC number 2.7.3.2
Orthologs
Species Human Mouse
Entrez 1152 12709
Ensembl ENSG00000166165 ENSMUSG00000001270
UniProt P12277 Q04447
RefSeq (mRNA) NM_001823 NM_021273
RefSeq (protein) NP_001814 NP_067248
Location (UCSC) Chr 14:
103.99 – 103.99 Mb
Chr 12:
111.67 – 111.67 Mb
PubMed search [1] [2]
creatine kinase, ectopic expression
Identifiers
Symbol CKBE
Entrez 1156
HUGO 1992
OMIM 123270
Other data
Locus Chr. 14 q32.3

Brain-type creatine kinase also known as CK-BB is a creatine kinase that in humans is encoded by the CKB gene.[2]

Function[edit]

The protein encoded by this gene, CK-BB, consists of a homodimer of two identical brain-type CK-B subunits. BB-CK is a cytoplasmic enzyme involved in cellular energy homeostasis, with certain fractions of the enzyme being bound to cell membranes, ATPases, and a variety of ATP-requiring enzymes in the cell. There, CK-BB forms tightly coupled microcompartments for in situ regeneration of ATP that has been used up. The encoded protein reversibly catalyzes the transfer of "energy-rich" phosphate between ATP and creatine or between phospho-creatine (PCr) and ADP. Its functional entity is a homodimer (CK-BB) in brain and smooth muscle as well as in other tissues and cells such as neuronal cells, retina, kidney, bone, etc. In heart, a heterodimer (CK-MB) shahil consisting of one CK-B brain-type CK subunit and one CK-M muscle-type CK subunit is prominently expressed. The encoded CK-BB and CK-MB proteins are members of the ATP:guanido phosphotransferase protein family.[3]

Ectopic expression[edit]

Ectopic expression (CKBE) of the B (brain) type of creatine kinase (CK-BB) in red cells and platelets is a rare, benign anomaly detected during a newborn screening program for Duchenne muscular dystrophy.[4][5]

References[edit]

  1. ^ Bong SM, Moon JH, Nam KH, Lee KS, Chi YM, Hwang KY (November 2008). "Structural studies of human brain-type creatine kinase complexed with the ADP-Mg2+-NO3- -creatine transition-state analogue complex". FEBS Lett. 582 (28): 3959–65. doi:10.1016/j.febslet.2008.10.039. PMID 18977227. 
  2. ^ Mariman EC, Schepens JT, Wieringa B (August 1989). "Complete nucleotide sequence of the human creatine kinase B gene". Nucleic Acids Res. 17 (15): 6385. doi:10.1093/nar/17.15.6385. PMC 318286. PMID 2771648. 
  3. ^ "Entrez Gene: CKB". 
  4. ^ Kotz R, Leber H, Ramach W, Arbes H, Wolf A (July 1977). "[Clinical observations on the use of high-dose methotrexate treatment in osteogenic sarcoma (author's transl)]". Wien. Klin. Wochenschr. (in German) 89 (14): 474–9. PMID 70889. 
  5. ^ Wienker TF, Ulferts A, Ott J, Bender K, Scheuerbrandt G, Arnold H, Ropers HH (1985). "A dominant mutation causing ectopic expression of the creatine kinase B gene maps on chromosome 14". Cytogenet. Cell Genet 40: 776. 

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.