基因名:
ADGRL4
产品别名:
ELTD1; ETL; KPG_003; ADGRL4; adhesion G protein-coupled receptor L4; adhesion G protein-coupled receptor L4; adhesion G protein-coupled receptor L4; EGF, latrophilin and seven transmembrane domain containing 1; EGF, latrophilin and seven transmembrane domain-containing protein 1; EGF-TM7-latrophilin-related protein; EGF毒素受体7跨膜结构域蛋白1; 乙醇胺激酶2;
背景信息:
Ethanolamine kinase 2, also known as EKI2, ETNK2 or HMFT1716, is a 386 amino acid protein that belongs to the choline/ethanolamine kinase family. Via the cytidine diphosphate (CDP) ethanolamine pathway, Ethanolamine kinase 2 catalyses the initial step of phosphatidylethanolamine (PtdEtn) biosynthesis. Ethanolamine kinase 2 is expressed in kidney, liver, testis, ovary and prostate, and is highly specific for ethanolamine phosphorylation. Upregulated during testis development, Ethanolamine kinase 2 may play an essential role in regulating placental hemostasis. Existing as three alternatively spliced isoforms, the gene encoding Ethanolamine kinase 2 maps to human and mouse chromosome 1. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.