The CHKB gene encodes for a key protein in phospholipid biosynthesis. The choline kinase (CK) and ethanolamine kinase (EK) proteins, which are coded by the CHKB gene, catalyze the phosphorylation of choline/ethanolamine in vitro to phosphocholine / phosphoethanolamine .

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.

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).

Title: Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene. Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.

2015年5月5日 · Positional cloning allowed identification of a 1.6-kb deletion in the Chkb gene as causative for the rmd phenotype. Western blot analysis confirmed complete loss of the Chkb protein, and there was decreased enzymatic activity of choline kinase and decreased levels of phosphatidylcholine.

2024年10月1日 · CHKB gene encodes choline kinase enzyme that catalyses the first step in membrane phospholipid phosphatidylcholine synthesis. Mutations in the CHKB gene lead to a muscular dystrophy, which has a characteristic histopathological pattern showing peripheral megamitochondria distribution, which has become the guide for histological diagnosis.

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.

The protein encoded by the CHKB gene catalyzes the first step in phosphatidylethanolamine biosynthesis and consequently plays as a key role in phospholipid biosynthesis. Homozygous or compound heterozygous mutations in this gene are responsible for megaconial type congenital muscular dystrophy (OMIM 602541).

2016年9月14日 · Gene target information for CHKB - choline kinase beta (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

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]