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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
RAX - Retina And Anterior Neural Fold Homeobox
Alias:
RX
RAX1
MCOP3
MCOPS16
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含同源盒的转录因子,在眼睛发育中发挥作用。该基因在眼睛原基早期表达,对于视网膜细胞命运决定是必需的,并调节干细胞增殖。这个基因的突变已经报道在患有眼发育缺陷的患者中,包括小眼症、无眼症和视神经萎缩。[由RefSeq,2009年10月提供]
Related ID:
NCBI:30062
ENSEMBL:ENSG00000134438
HGNC:18662
UNIPROT:Q9Y2V3
OMIM:601881
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
30062
1
3
6417 bp
36.68
155
4
9
6
RAX 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
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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