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中文人类
FKRP - Fukutin Related Protein
Alias:
FKTR
MDC1C
LGMD2I
LGMDR9
MDDGA5
MDDGB5
MDDGC5
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这个基因编码一种定位于介质性高尔基体的蛋白质，对于肌营养不良蛋白的翻译后修饰是必需的。这个基因的突变与先天性肌营养不良、认知障碍和小脑囊肿有关。这个基因的几个可变剪接转录本已经被描述，但是其中一些变体的完整长度尚未确定。[由RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FKRP 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
