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中文人类
FKTN - Fukutin
Alias:
FCMD
CMD1X
LGMD2M
MDDGA4
MDDGB4
MDDGC4
LGMDR13
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这个基因编码的蛋白质是一个推测的跨膜蛋白，定位在cis-高尔基体腔室中，可能参与骨骼肌中α-肌营养不良蛋白的糖基化。编码的蛋白质被认为是一种糖基转移酶，可能在大脑发育中发挥作用。这个基因的缺陷是Fukuyama型先天性肌营养不良（FCMD）、Walker-Warburg综合征（WWS）、2M型四肢带肌营养不良（LGMD2M）和1X型扩张性心肌病（CMD1X）的原因。已经发现了这个基因的替代剪接转录变异体。[RefSeq,2010年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FKTN 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
