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中文人类
OCRL - OCRL Inositol Polyphosphate-5-phosphatase
Alias:
LOCR
DENT2
NPHL2
OCRL1
Dent-2
INPP5F
OCRL-1
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这个基因编码一个肌醇多磷酸5-磷酸酶。这个蛋白质参与调节膜囊泡运输，位于许多亚细胞位置，包括高尔基网络、笼状小窝、内体和质膜。这个蛋白质也可能在初级纤毛形成中发挥作用。这个基因的突变导致Lowe眼病和Dent病。交替剪接产生多个转录子变异体。[由RefSeq，2016年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
OCRL 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
