CHKB (choline kinase beta)
- symbol:
- CHKB
- locus group:
- protein-coding gene
- location:
- 22q13.33
- gene_family:
- alias symbol:
- CHETK
- alias name:
- None
- entrez id:
- 1120
- ensembl gene id:
- ENSG00000100288
- ucsc gene id:
- uc003bmv.4
- refseq accession:
- NM_005198
- hgnc_id:
- HGNC:1938
- approved reserved:
- 1996-12-18
CHKB（胆碱激酶β）是胆碱激酶基因家族的一员，该家族还包括CHKA（胆碱激酶α）。胆碱激酶家族的主要功能是催化胆碱磷酸化生成磷酸胆碱，这是磷脂酰胆碱（细胞膜主要成分）合成的第一步。CHKB主要在肝脏、肌肉和大脑中高表达，其产物参与磷脂代谢，对细胞膜完整性、信号传导和脂质稳态至关重要。CHKB突变可能导致罕见的常染色体隐性遗传病——先天性肌营养不良伴线粒体异常（MDCMC），表现为肌无力、发育迟缓和线粒体功能障碍。CHKB功能缺失会影响磷脂代谢，导致肌肉和神经细胞膜稳定性受损。过表达CHKB可能通过增加磷脂合成促进细胞增殖，在某些癌症中观察到CHKB表达上调。降低CHKB表达会减少磷脂酰胆碱合成，可能影响细胞膜修复和神经功能。CHKB与脂代谢疾病、神经退行性疾病和某些癌症相关。该基因家族成员均含有保守的催化结构域，但CHKB对乙醇胺激酶活性更高，而CHKA更偏向胆碱激酶活性。
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. [provided by RefSeq, Jun 2009]
None
基因本体信息
CHKB基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
CHKB基因的本体（GO）信息：
| 名称 |
|---|
| 564 Glycerophospholipid metabolism [PATH:hsa00564] |
| 5231 Choline metabolism in cancer [PATH:hsa05231] |
| 名称 |
|---|
| Glycerophospholipid biosynthesis |
| Metabolism |
| Metabolism of lipids and lipoproteins |
| Phospholipid metabolism |
| Synthesis of PC |
| Synthesis of PE |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Narcolepsy | 0.243452799 | 4 | 3 | BeFree_CTD_human_GAD_GWASCAT |
| Muscular Dystrophy, Congenital, Megaconial Type | 0.2 | 0 | 0 | MGD_ORPHANET |
| Disorders of Excessive Somnolence | 0.002367032 | 1 | 0 | GAD |
| Congenital muscular dystrophy (disorder) | 0.000814326 | 3 | 0 | BeFree |
| Muscular Dystrophy | 0.000542884 | 2 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Hypersomnia | 0.000271442 | 1 | 0 | BeFree |
| Colonic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Hematological Disease | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
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