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中文人类
STOM - Stomatin
Alias:
BND7
EPB7
EPB72
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这个基因编码一个高度保守的整合膜蛋白家族成员。编码的蛋白质定位在红细胞和其他细胞类型的细胞膜上，在那里它可以调节离子通道和转运蛋白。编码蛋白质定位丧失与遗传性咬噬红细胞症有关，这是一种溶血性贫血形式。第6号染色体上有一个这个基因的假基因。选择性剪接导致多个转录变异体。[由RefSeq，2012年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
STOM 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
