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中文人类
SLC25A20 - Solute Carrier Family 25 Member 20
Alias:
CAC
CACT
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这个基因产物是几种密切相关的线粒体膜载体蛋白之一，这些蛋白在细胞质和线粒体内膜间空间之间穿梭底物。这个蛋白介导酰肉碱进入线粒体基质进行氧化，通过线粒体脂肪酸氧化途径。这个基因的突变与肉碱-酰肉碱移位酶缺乏症有关，这可能导致多种病理状况，如低血糖、心脏停搏、肝肿大、肝功能异常和肌肉无力，通常新生儿和婴儿是致命的。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC25A20 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
