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中文人类
RP2 - RP2 Activator Of ARL3 GTPase
Alias:
XRP2
NME10
TBCCD2
NM23-H10
DELXp11.3
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X-连锁视网膜色素变性的一种原因是RP2基因座。预测的基因产物与人类辅因子C同源，辅因子C是一种参与β-微管蛋白折叠最终步骤的蛋白质。因此，进行性视网膜变性可能是由于光感受器或神经元特异性的微管蛋白异构体的折叠错误积累，随后导致细胞死亡逐渐加重[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RP2 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
