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中文人类
WFS1 - Wolframin ER Transmembrane Glycoprotein
Alias:
WFS
WFRS
WFSL
CTRCT41
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这个基因编码一种位于内质网中的主要膜蛋白，它在大脑、胰腺、心脏和胰岛素瘤β细胞系中普遍表达，其中大脑、胰腺和心脏中的表达水平最高。这个基因的突变与Wolfram综合征（也称为DIDMOAD，即尿崩症、糖尿病、视神经萎缩和耳聋）有关，这是一种常染色体隐性疾病。该疾病影响大脑和中枢神经系统。这个基因的突变还可以引起常染色体显性耳聋6（DFNA6），也称为DFNA14或DFNA38。已经发现了这个基因的可变剪接转录变异体。[RefSeq，2009年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
WFS1 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
