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Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine.
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The whole exome sequencing revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB) gene in exon 9.
A new form of congenital muscular dystrophy with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta gene defects has been characterized.
A novel silent variant in the choline kinase beta causing muscular dystrophy.
study identified a novel haplotype consisting of the indel variation, which had not been detected in previous studies in Japanese and Korean populations, and observed four single-nucleotide polymorphisms in CHKB/CPT1B (zeige CPT1B ELISA Kits)
CHKB encodes choline kinase beta, an enzyme that catalyzes the first de-novo biosynthetic step of phosphatidylcholine, the most abundant phospholipid in the eukaryotic membrane [review]
CHKB activity was reduced in all three patients, significant reduction in choline:N-acetyl aspartate and choline:creatine ratios in keeping with a general decrease in the amount of choline and phosphocholine-based substrate
The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B (zeige CPT1B ELISA Kits)/CHKB (rs5770917) in the Chinese population.
homozygous or compound heterozygous mutations in the gene encoding choline kinase beta were identified in individulas with congenital muscular dystrophy.
kinetic studies revealed that HC-3 (zeige PSMA2 ELISA Kits) is a much more potent inhibitor for ChoKalpha isoforms (alpha1 and alpha2) compared with ChoKbeta.
A single nucleotide polymorphism located between CPT1B (zeige CPT1B ELISA Kits) and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 x 10(-7)) and other ancestry groups (OR = 1.40, P = 0.02).
CHKB is a new modulator of bone homeostasis
Our data indicate that choline kinase beta plays an important role in endochondral bone formation by modulating growth plate physiology.
Loss of choline kinase beta in skeletal muscle causes mitochondrial dysfunction and increased mitophagy.
Experimental evidence for the presence of heteromeric ChoK/EtnK in any source. The activity of ChoK/EtnK in the cell is controlled not only by the level of each isoform but also by their combination to form the active oligomer complex.
choline kinase beta is the first enzyme in phosphatidylcholine (zeige SGMS2 ELISA Kits) biosynthesis and has a role in rostrocaudal muscular dystrophy
The hindlimb muscular dystrophy in Chkb -/- mice is due to attenuated phosphatidylcholine (zeige SGMS2 ELISA Kits) biosynthesis and enhanced catabolism of phosphatidylcholine (zeige SGMS2 ELISA Kits).
Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family\; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus.
choline kinase-like protein
, choline/ethanolamine kinase
, ethanolamine kinase beta
, choline kinase beta
, choline/ethanolamine kinase beta
, ethanolamine kinase
, choline/ethanolamine kinase-b