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中文人类
MFSD8 - Major Facilitator Superfamily Domain Containing 8
Alias:
CCMD
CLN7
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这个基因编码一个普遍存在的整膜蛋白，该蛋白包含一个转运蛋白结构域和一个主要设施家族（MFS）结构域。主要设施家族的其它成员通过化学离子梯度运输小分子溶质。这个蛋白所转运的底物未知。这个蛋白可能定位到溶酶体膜上。这个基因的突变与婴儿晚期发病的神经元蜡黄素贮积症（vLINCL）的变异形式相关。[RefSeq,2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MFSD8 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
