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The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), 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. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011]
[中文简述(自动翻译):]  由该基因编码的蛋白质,醛缩酶A(醛缩酶),是催化果糖-1,6-双磷酸,以甘油醛-3-磷酸和二羟基丙酮磷酸的可逆转换糖酵解酶。三醛缩酶同工酶(A,B和C)中,由三个不同的基因编码,在开发过程中差异表达。醛缩酶A在发育中的胚胎中发现,并且在成年肌肉甚至更大量的产生。醛缩酶A表达在成年肝,肾,肠和类似醛缩酶在脑和其他神经组织C水平压制。醛缩酶A缺乏症已与肌病和溶血性贫血有关。选择性剪接,并在多个转录变异体替代的启动子的使用的结果。相关假已经确定在[由RefSeq的,2011年8月提供]染色体3和10
ALDOA基因(以及对应的蛋白质)的细胞分布位置:
ALDOA基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Glycogen Storage Disease XII | 0.48 | 3 | 3 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Neoplasm Invasiveness | 0.12 | 1 | 0 | CTD_human |
Neoplasm Metastasis | 0.12 | 1 | 0 | CTD_human |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
Adenocarcinoma of lung (disorder) | 0.12 | 1 | 0 | CTD_human |
Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Endotoxemia | 0.08 | 1 | 0 | RGD |
Anemia | 0.002367032 | 1 | 0 | GAD |
Autistic Disorder | 0.002367032 | 1 | 0 | GAD |
Anemia, Hemolytic | 0.000271442 | 1 | 0 | BeFree |
Anemia, Hemolytic, Congenital | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Sleep Apnea, Obstructive | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
Spondylarthropathies | 0.000271442 | 1 | 0 | BeFree |
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