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中文人类
NPHS1 - NPHS1 Adhesion Molecule, Nephrin
Alias:
CNF
NPHN
nephrin
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这个基因编码免疫球蛋白家族的一员，该家族在肾脏的肾小球滤过屏障中起细胞粘附分子作用。该基因主要在肾组织中表达，蛋白质是一种在肾小球足细胞裂孔膜处发现的1型跨膜蛋白。裂孔膜被认为在尿形成的过程中起到超滤作用，排除白蛋白和其他血浆大分子。这个基因的突变导致芬兰型先天性肾病1，其特点是严重的蛋白尿和裂孔膜及足细胞突触的丧失。[由RefSeq，2009年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NPHS1 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
