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中文人类
SLC6A5 - Solute Carrier Family 6 Member 5
Alias:
NET1
GLYT2
HKPX3
GLYT-2
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这个基因编码一种依赖钠和氯的甘氨酸神经递质转运体。这种整合膜糖蛋白负责清除甘氨酸介导的神经传递过程中的细胞外甘氨酸。这种蛋白质存在于甘氨酸能轴突中，并在甘氨酸能突触处维持一个高浓度的神经递质池。这个基因的突变会导致肌张力过强；这是一种以过度惊吓反应和新生儿呼吸暂停为特征的异质性神经系统疾病。已经发现这个基因有两个转录变异体，编码不同的异构体。[由RefSeq，2016年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC6A5 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
