CKB (gene)

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CKB
3b6r.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CKB, B-CK, BCK, CKBB, HEL-211, HEL-S-29, creatine kinase B
External IDs MGI: 88407 HomoloGene: 37530 GeneCards: CKB
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001823

NM_021273

RefSeq (protein)

NP_001814

NP_067248.1
NP_067248

Location (UCSC) Chr 14: 103.52 – 103.52 Mb Chr 12: 111.67 – 111.67 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
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.[3]

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.[4]

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.[5][6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 318286Freely accessible. PMID 2771648. 
  4. ^ "Entrez Gene: CKB". 
  5. ^ 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. 
  6. ^ 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.