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中文人类
GNE - Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine Kinase
Alias:
NM
DMRV
IBM2
Uae1
GLCNE
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这个基因编码的蛋白质是一种双功能酶，可以启动并调节N-乙酰神经氨酸（NeuAc）的生物合成，NeuAc是唾液酸的前体。在唾液酸生物合成途径中，它是一种限速酶。细胞表面分子的唾液酸修饰在许多生物过程中至关重要，包括细胞粘附和信号传导。恶性细胞的肿瘤发生和转移行为也与细胞表面分子的差异唾液酸化有关。这个基因的突变与唾液尿、常染色体隐性包含体肌病和野中肌病有关。这个基因的可变剪接导致编码不同异质体的转录变异体。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GNE Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
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
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
