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中文人类
ALDOA - Aldolase, Fructose-bisphosphate A
Alias:
ALDA
GSD12
HEL-S-87p
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这个基因编码I型果糖-二磷酸醛缩酶蛋白家族的成员。编码的蛋白质是一种糖酵解酶，催化果糖-1,6-二磷酸可逆地转化为甘油醛-3-磷酸和二羟基丙酮磷酸。三种醛缩酶同功酶（A、B和C）由三个不同的基因编码，在发育过程中差异表达。这个基因的突变与糖原储存病XII有关，这是一种常染色体隐性疾病，与溶血性贫血有关。破坏这个基因还在多种癌症的发展中起作用。相关的假基因在染色体3和10上被鉴定。[RefSeq,2017年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ALDOA Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
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Name
MGI
Strain of Origin
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CAS Number
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Phase
Link
References Literature
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PMID
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Year
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