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中文人类
SLC25A13 - Solute Carrier Family 25 Member 13
Alias:
CTLN2
NICCD
CITRIN
ARALAR2
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这个基因是线粒体载体家族的一员。编码的蛋白质在N端结构域含有四个EF手钙(2+)结合基序，定位在线粒体中。该蛋白质催化天冬氨酸交换谷氨酸和质子穿过内线粒体膜，并受内线粒体膜外钙的刺激。这个基因的突变导致Ⅱ型胱氨酸血症。已经发现这个基因有多个转录变异体，编码不同的异构体。[RefSeq提供，2009年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC25A13 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
