🧬 基因注释:ALDOA
官方名称:aldolase, fructose-bisphosphate A
功能摘要:This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017].
- ACIN1 置信度: 2.0
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2T 置信度: 2.0
- DDX5 置信度: 2.0
- EIF4A3 置信度: 2.0
- EWSR1 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- MBNL1 置信度: 2.0
- PABPC4 置信度: 2.0
- PCBP1 置信度: 2.0
- PTBP1 置信度: 2.0
该基因暂无关联疾病记录