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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
GPI - Glucose-6-phosphate Isomerase
Alias:
AMF
NLK
PGI
PHI
GNPI
SA36
SA-36
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码磷酸葡萄糖异构酶蛋白家族的成员。已识别的编码蛋白具有执行机制上不同的功能的能力,作为兼职蛋白。在细胞质中,基因产物作为糖酵解酶(6-磷酸葡萄糖异构酶)发挥作用,使6-磷酸葡萄糖和6-磷酸果糖相互转换。在细胞外,编码的蛋白质(也称为神经白细胞素)作为神经营养因子发挥作用,促进骨骼运动神经元和感觉神经元的生存,并作为诱导免疫球蛋白分泌的淋巴因子。编码的蛋白质也被称为自分泌运动因子,基于作为肿瘤分泌的细胞因子和血管生成因子的额外功能。这个基因的缺陷是导致非球形细胞性溶血性贫血的原因,严重的酶缺乏可能与胎儿水肿、立即新生儿死亡和神经功能障碍有关。可变剪接导致多个转录变异体。[RefSeq,2016年8月提供]
Related ID:
NCBI:2821
ENSEMBL:ENSG00000105220
HGNC:4458
UNIPROT:P06744
OMIM:172400
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2821
8
18
42696 bp
63.15
121
1
17
32
GPI Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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