2023年3月30日 · CHKB -related muscular dystrophy (CHKB -MD), reported in 47 individuals to date, comprises congenital muscular dystrophy (CMD) (44 individuals) and adolescent-onset limb-girdle muscular dystrophy (LGMD) (3 individuals).

2024年12月24日 · CHKB (Choline Kinase Beta) is a Protein Coding gene. Diseases associated with CHKB include Muscular Dystrophy, Congenital, Megaconial Type and Proximal Myopathy With Focal Depletion Of Mitochondria. Among its related pathways are Glycerophospholipid biosynthesis and One-carbon metabolism and related pathways.

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 encoded by the CHKB gene. [5][6] This gene is found on chromosome 22 in humans. The encoded protein plays a key role in phospholipid biosynthesis.

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 及其重组基因产物已被证明也具有 EK 活性，表明这两种活性存在于同一蛋白质上。 CHKL 编码的胆碱激酶样蛋白属于胆碱/乙醇胺激酶家族；然而，其确切功能尚不清楚。 通读转录本从该基因座表达，包括来自下游 CPT1B 基因座的外显子。 [RefSeq 提供，2009 年 6 月]

2024年9月18日 · Clinical resource with information about CHKB, Megaconial type congenital muscular dystrophy, Variant between CPT1B and CHKB associated with susceptibility to narcolepsy., and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2021年3月12日 · Megaconial congenital muscular dystrophy (CMD) (OMIM #602541), related to CHKB mutation, is a rare autosomal recessive disorder. To date, only 35 confirmed patients are recorded. We present a...

2015年5月5日 · 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 ADP. This step commits choline to the enzymatic pathway for biosynthesis of phosphatidylcholine (Ishidate, 1997; Aoyama et al., 2000).

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染色体上发现。 编码的蛋白质在磷脂生物合成中起关键作用。 胆碱激酶（CK）和乙醇胺激酶（E...

2022年3月23日 · 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 mice, inactivation of the...