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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
GAPDH - Glyceraldehyde-3-phosphate Dehydrogenase
Alias:
G3PD
GAPD
HEL-S-162eP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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References Literature
这个基因编码一个糖醛酸-3-磷酸脱氢酶蛋白家族的成员。根据其执行机制上不同的功能的能力,该编码蛋白已被鉴定为兼职蛋白。这个基因的产品在碳水化合物代谢中催化一个重要的能量产生步骤,即在无机磷酸盐和烟酰胺腺嘌呤二核苷酸(NAD)存在下,糖醛酸-3-磷酸的可逆氧化磷酸化。此外,该编码蛋白在核中具有尿嘧啶DNA糖基化酶活性。此外,该蛋白还含有对大肠杆菌、绿脓杆菌和白色念珠菌具有抗菌活性的肽。在小鼠中类似蛋白质的研究分配了各种其他功能,包括核蛋白的亚硝酰化、mRNA稳定性的调节以及作为巨噬细胞细胞表面的转铁蛋白受体。人类基因组中有很多与这个基因座相似的假基因。替代剪接导致多个转录变异体。[RefSeq,2014年11月提供]
Related ID:
NCBI:2597
ENSEMBL:ENSG00000111640
HGNC:4141
UNIPROT:P04406
OMIM:138400
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Related Mouse Models
Reference
2597
5
9
3855 bp
36.05
5
1
12
50
GAPDH Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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