Log In|Sign Up
中文人类
CTNS - Cystinosin, Lysosomal Cystine Transporter
Alias:
PQLC4
SLC66A4
CTNS-LSB
Favorite
这个基因编码一个七跨膜结构域蛋白，负责将胱氨酸从溶酶体中运输出去。其活性受溶酶体膜的H+电化学梯度的驱动。这个基因的突变导致胱氨酸病，一种溶酶体储存障碍。可变剪接产生了多种转录子变异体。[RefSeq,2009年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CTNS 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
