Log In|Sign Up
中文人类
SLC22A5 - Solute Carrier Family 22 Member 5
Alias:
CDSP
OCTN2
Favorite
肝脏、肾脏、肠道和其他器官中的多特异性的有机阳离子转运蛋白对于消除许多内源性的小的有机阳离子以及大量药物和环境毒素至关重要。编码的蛋白质是一种血浆整合膜蛋白，既作为有机阳离子转运体又作为钠依赖的高亲和力肉碱转运体发挥作用。该编码蛋白质参与肉碱的活性细胞摄取。此基因的突变是原发性系统性肉碱缺乏（CDSP）的原因，这是一种常染色体隐性疾病，出生后早期表现为酮症低血糖和急性代谢失调，成年后表现为骨骼肌病或心肌病。此基因的可变剪接导致多个转录变异体。[RefSeq，2015年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC22A5 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
