Isolation and characterization of the humand -glyceric acidemia related glycerate kinase geneGLYCTK1and its alternatively splicing variantGLYCTK2
| Autor: | Guangjin Zhou, Li Chen, Long Yu, Chaoqun Wu, Shouyuan Zhao, Jian-Min Jiang, Guo-Qing Ji, Xiang Wang, Ya-Hui Kong, Saiyin Hexige, Jinhu Guo |
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| Rok vydání: | 2006 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Kinase In silico nutritional and metabolic diseases In situ hybridization Biology D-Glyceric acidemia medicine.disease Biochemistry Molecular biology Endocrinology RNA splicing Gene expression Genetics medicine Molecular Biology Gene Glycerate kinase |
| Zdroj: | DNA Sequence. 17:1-7 |
| ISSN: | 1042-5179 |
| DOI: | 10.1080/10425170500476665 |
| Popis: | Deficiency of human glycerate kinase leads to d-glycerate acidemia/d-glyceric aciduria. Through PCR cloning assisted by in silico approach, we isolated the human glycerate kinase genes—Glycerate Kinase 1 (GLYCTK1) and its alternatively splicing variant—Glycerate Kinase 2 (GLYCTK2), which might be associated with d-glycerate acidemia/d-glyceric aciduria. The locus of GLYCTK gene is mapped to 3p21. PCR amplification in seventeen human tissue cDNAs revealed that both GLYCTK1 and GLYCTK2 are expressed widely almost in all these tissues. The expression of mouse Glyctk in various tissues was demonstrated by in situ hybridization. Both GLYCTK1 and GLYCTK2 proteins are localized in cytosol, and GLYCTK2 proteins are specifically localized in mitochondria. Present results revealed the characteristic expression pattern of murine Glyctk in neural system, skeleton muscle, supporting that glycerate kinase is implicated in d-glycerate acidemia/d-glyceric aciduria. |
| Databáze: | OpenAIRE |
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