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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
FOXC1 - Forkhead Box C1
Alias:
ARA
IGDA
IHG1
ASGD3
FKHL7
IRID1
RIEG3
FREAC3
FREAC-3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于翼状螺杆转录因子家族,其特征是具有一个独特的DNA结合翼状螺杆结构域。这个基因的特定功能尚未确定,但已表明它参与胚胎和眼发育的调节。这个基因的突变导致各种青光眼表型,包括原发性先天性青光眼、常染色体显性虹膜异常和Axenfeld-Rieger异常。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2296
ENSEMBL:ENSG00000054598
HGNC:3800
UNIPROT:Q12948
OMIM:601090
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2296
1
1
3983 bp
56.79
474
8
6
48
FOXC1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
Organ
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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