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中文人类
SLC4A11 - Solute Carrier Family 4 Member 11
Alias:
BTR1
CHED
CDPD1
CHED2
NABC1
dJ794I6.2
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这个基因编码一个电压调节的、电生的钠耦合硼酸盐共同转运蛋白，对硼酸盐稳态、细胞生长和细胞增殖至关重要。这个基因的突变与多种内皮角膜营养不良有关，包括隐性角膜内皮营养不良2、角膜营养不良和感音性耳聋，以及Fuchs内皮角膜营养不良。已经描述了多种转录变异体，它们编码不同的异构体。[由RefSeq，2010年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC4A11 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
