| 词条 | CKB (gene) |
| 释义 |
| Name = creatine kinase, ectopic expression | caption = | image = | width = | HGNCid = 1992 | Symbol = CKBE | AltSymbols = | EntrezGene = 1156 | OMIM = 123270 | RefSeq = | UniProt = | PDB = | ECnumber = | Chromosome = 14 | Arm = q | Band = 32.3 | LocusSupplementaryData = }}Brain-type creatine kinase also known as CK-BB is a creatine kinase that in humans is encoded by the CKB gene.[1] FunctionThe 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.[2] == 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.[3][4]References1. ^{{cite journal | vauthors = Mariman EC, Schepens JT, Wieringa B | title = Complete nucleotide sequence of the human creatine kinase B gene | journal = Nucleic Acids Res. | volume = 17 | issue = 15 | pages = 6385 | date=August 1989 | pmid = 2771648 | pmc = 318286 | doi = 10.1093/nar/17.15.6385 | url = | issn = }} 2. ^{{cite web | title = Entrez Gene: CKB | url =https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1152| accessdate = }} 3. ^{{cite journal | vauthors = Kotz R, Leber H, Ramach W, Arbes H, Wolf A | title = [Clinical observations on the use of high-dose methotrexate treatment in osteogenic sarcoma (author's transl)] | language = German | journal = Wien. Klin. Wochenschr. | volume = 89 | issue = 14 | pages = 474–9 | date=July 1977 | pmid = 70889 | doi = | url = | issn = }} 4. ^{{Cite journal | title = A dominant mutation causing ectopic expression of the creatine kinase B gene maps on chromosome 14 | year = 1985 | journal = Cytogenet. Cell Genet. | doi = 10.1159/000316956 | pages = 776 | volume = 40 | vauthors = Wienker TF, Ulferts A, Ott J, Bender K, Scheuerbrandt G, Arnold H, Ropers HH | postscript = }} External links
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