CKB (gene)

creatine kinase, brain
Crystallographic structure of chicken brain creatine kinase.[1]
Identifiers
Symbol CKB
Alt. symbols CKBB, CK-1
Entrez 1152
HUGO 1991
OMIM 123280
PDB 1QH4
RefSeq NM_001823
UniProt P12277
Other data
EC number 2.7.3.2
Locus Chr. 14 q32.3
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 which in humans is encoded by the CKB gene.[2]

Contents

Function

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, smooth muscle as well as in other tissues and cells such as neuronal cells, retina, kidney, bone etc. In heart, a heterodimer (CK-MB) 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

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

  1. ^ PDB 1QH4 1QH4; Eder M, Schlattner U, Becker A, Wallimann T, Kabsch W, Fritz-Wolf K (November 1999). [h "Crystal structure of brain-type creatine kinase at 1.41 A resolution"]. Protein Sci. 8 (11): 2258–69. doi:10.1110/ps.8.11.2258. PMC 2144193. PMID 10595529. h. 
  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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=318286. 
  3. ^ "Entrez Gene: CKB". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1152. 
  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)]" (in German). Wien. Klin. Wochenschr. 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

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