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中文人类
SLC5A7 - Solute Carrier Family 5 Member 7
Alias:
CHT
CHT1
CMS20
HMN7A
DHMNVP
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这个基因编码一个依赖于钠离子和氯离子的高亲和力转运蛋白，负责在胆碱能神经元中介导胆碱摄取，以合成乙酰胆碱。该蛋白将胆碱从细胞外空间转运到突触前终端，以合成乙酰胆碱。胆碱摄取的增加是由于胆碱能末梢去极化后突触体膜上该蛋白密度增加所导致的。胆碱能信号传导的功能障碍与各种疾病有关，包括抑郁症、注意力缺陷障碍和精神分裂症。该基因的一个等位基因变异与常染色体显性远端遗传性运动神经元病类型VIIA有关。可变剪接导致多个转录变异体。[由RefSeq，2015年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC5A7 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
