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中文人类
LMX1B - LIM Homeobox Transcription Factor 1 Beta
Alias:
NPS1
FSGS10
LMX1.2
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这个基因编码一个LIM-homeodomain家族的蛋白质成员，该蛋白质含有两个N-端锌结合LIM结构域，一个homeodomain，和一个C-端富含谷氨酰胺的结构域。它作为转录因子发挥作用，对背肢结构的正常发育、肾小球基底膜、眼睛前段以及多巴胺能和血清素能神经元是必不可少的。这个基因的突变与指甲-帕塔综合征有关。已经发现这个基因的不同剪接转录变异体编码不同的异构体。[RefSeq，2010年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LMX1B 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
