CKB
| Kreatin-kinaza, ektopijska ekspresija | |
|---|---|
| Identifikatori | |
| Simbol | CKBE |
| NCBI gen | 1156 |
| HGNC | 1992 |
| OMIM | 123270 |
| Ostali podaci | |
| Lokus | Hrom. 14 q32.3 |
Moždani tip kreatin-kinaze poznat i kao CK-BB je kreatin-kinaza koja je kod ljudi kodirana genom CKB.[5]
Funkcija
Protein koji jekodiran ovim genom, CK-BB, sastoji se od homodimera od dvije identične CK-B podjedinice mozga. BB-CK je citoplazmatski enzim koji je uključen u homeostazu ćelijske energije, s tim što su određene frakcije enzima vezane za ćelijske membrane, ATPaza i raznih enzima koji zahtijevaju ATP u ćeliji. Tamo CK-BB formira čvrsto povezane mikrokomponente za in situ regeneraciju ATP koji je potrošen. Kodirani protein reverzibilno katalizira prijenos "energetski bogatog" fosfata između ATP i kreatina ili između fosfo-kreatina (PCr) i ADP. Njegova funkcionalna cjelina je homodimer (CK-BB) u mozgu i glatkim mišićima, kao i u drugim tkivima i ćelijama poput neuronskih ćelija, mrežnjače, bubrega, kostiju, itd. U srcu, heterodimer (CK-MB ) koji se sastoji od jedne CK-B CK podjedinice mozga i jedne CK-M CK podjedinice mišića. Kodirani proteini CK-BB i CK-MB članovi su ATP porodice proteina gvanido-fosfotransferaze.[6]
Ektopijska ekspresija
Ektopijska ekspresija (CKBE) tipa B (mozak) kreatin-kinaze (CK-BB) u eritrocitima i trombocitima je rijetka, benigna anomalija otkrivena tokom skrining programa za novorođenčad za Dichenneovu mišićnu distrofiju.[7][8]
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000166165 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001270 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ "Entrez Gene: CKB".
- ^ Kotz R, Leber H, Ramach W, Arbes H, Wolf A (juli 1977). "[Clinical observations on the use of high-dose methotrexate treatment in osteogenic sarcoma (author's transl)]". Wien. Klin. Wochenschr. (jezik: njemački). 89 (14): 474–9. PMID 70889.
- ^ 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. doi:10.1159/000316956.
Vanjski linkovi
- Creatine Kinase, BB Form na US National Library of Medicine Medical Subject Headings (MeSH)
- Lokacija ljudskog genoma CKB i stranica sa detaljima o genu CKB u UCSC Genome Browseru.
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