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词条

GLYCTK

ID: 32649 添加时间: 2024/7/4 12:19:42 修改时间: 2025/2/9 2:13:16 词条编辑: 刘小见
同义词甘油酸激酶 ; glycerate kinase;HBEBP4 ; HBEBP2 ;
基因信息染色体位置: 3p21.2   基因类型: 蛋白编码基因 , 酶
层次树 人类基因组 2.转移酶 2.7-转移酶.含磷基团 2.7.1-激酶.羟基受体
外库HGNC   GeneCards   NCBI   Kegg   KO   UniProt   Signor   Ensembl   AllianceGenome   UCSC   GenCC   OrphaNet   VEGA   OMIM   PubMed   RefSeq   CCDS1 ,2
父-分类
酶功能
  • EC 2.7.1.31 甘油酸3-激酶     glycerate 3-kinase
    EC 2.7.1.165 甘油酸2-激酶     glycerate 2-kinase
相关RNA
简介
This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
Diseases associated with GLYCTK include D-Glyceric Aciduria and Epilepsy, Myoclonic Juvenile. Among its related pathways are Fructose metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include glycerate kinase activity.
[Isoform 1]Cytoplasm {ECO:0000269 PubMed:16753811}4
[Isoform 2]Cytoplasm
Mitochondrion {ECO:0000269 PubMed:16753811}4