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中文人类
CRB1 - Crumbs Cell Polarity Complex Component 1
Alias:
LCA8
RP12
CRB1-A
CRB1-B
CRB1-C
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这个基因编码一种与果蝇 crumbs 蛋白相似的蛋白质，并定位在哺乳动物视网膜的内节。在果蝇中，crumbs 定位在果蝇光感受器的柄上，可能是控制眼睛正确发育极性的分子支架的组成部分。这个基因的突变与一种严重的视网膜色素变性（RP12）和 Leber 先天性黑蒙症有关。交替剪接产生多个转录变体，有些编码蛋白质，有些不编码蛋白质。[由 RefSeq 提供，2012年4月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CRB1 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
