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中文人类
EYA1 - EYA Transcriptional Coactivator And Phosphatase 1
Alias:
BOP
BOR
BOS1
OFC1
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这个基因编码眼睛缺失（EYA）家族蛋白质的一员。编码的蛋白质可能在发育中的肾脏、鳃弓、眼睛和耳朵中发挥作用。这个基因的突变与鳃肾发育不良综合征、鳃耳综合征以及散发的先天性白内障和眼前段异常有关。小鼠中类似的一种蛋白质可以作为一种转录激活子。已经发现了这个基因的替代剪接转录变异体。[RefSeq,2013年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
EYA1 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
