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中文人类
ALG14 - ALG14 UDP-N-acetylglucosaminyltransferase Subunit
Alias:
CMS15
MEPCA
IDDEBF
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这个基因是糖基转移酶1家族的成员。编码的蛋白质和ALG13被认为是UDP-GlcNAc转移酶的亚基，该酶催化内质网N-连接糖基化中的前两个决定性步骤。这个基因的突变与先天性肌无力症(CMSWTA)有关。发现了可变剪接转录变体。[由RefSeq提供，2015年3月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ALG14 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
