Mar 30, 2023 · CHKB -related muscular dystrophy (CHKB -MD), reported in 47 individuals to date, comprises congenital muscular dystrophy (CMD) (44 individuals) and adolescent-onset limb …

Dec 24, 2024 · CHKB (Choline Kinase Beta) is a Protein Coding gene. Diseases associated with CHKB include Muscular Dystrophy, Congenital, Megaconial Type and Proximal Myopathy With …

Choline kinase beta (CK), also known as Ethanolamine kinase (EK), Choline kinase-like protein , choline/ethanolamine kinase beta (CKEKB), or Choline/ethanolamine kinase is a protein …

Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients. Zemorshidi F, et al.Neuromuscul Disord, 2023 Jul. PMID 37393748

胆碱激酶 (CK) 和乙醇胺激酶 (EK) 催化胆碱/乙醇胺磷酸化为磷酸胆碱/磷酸乙醇胺。 这是所有动物细胞中磷脂酰胆碱/磷脂酰乙醇胺生物合成中的第一种酶。 来自哺乳动物的高度纯化的 CKs 及 …

Sep 18, 2024 · Clinical resource with information about CHKB, Megaconial type congenital muscular dystrophy, Variant between CPT1B and CHKB associated with susceptibility to …

Mar 12, 2021 · Megaconial congenital muscular dystrophy (CMD) (OMIM #602541), related to CHKB mutation, is a rare autosomal recessive disorder. To date, only 35 confirmed patients …

May 5, 2015 · Choline kinases (EC 2.7.1.32), such as CHKB and CHKA (118491), catalyze phosphorylation of choline by ATP in the presence of Mg (2+), yielding phosphocholine and …

胆碱激酶β（CK） ，也称为乙醇胺激酶（EK） ，胆碱激酶样蛋白，胆碱/乙醇胺激酶β（CKEKB）或胆碱/乙醇胺激酶是由CHKB基因编码的蛋白质。 该基因在人类的22染色体上 …

Mar 23, 2022 · CHKB encodes one of two mammalian choline kinase enzymes that catalyze the first step in the synthesis of the membrane phospholipid phosphatidylcholine. In humans and …