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中文人类
TMEM185A - Transmembrane Protein 185A
Alias:
ee3
FRAXF
FAM11A
CXorf13
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这个基因编码的蛋白质预测为跨膜蛋白。这个基因最为人所知的是定位在脆性位点FRAXF的CpG岛。这个基因的5'非翻译区包含一个CGG三核苷酸重复序列，正常情况下由7-40个串联的CGG重复序列组成，但可能扩展到大于300个重复。CpG岛的甲基化导致这个基因的转录沉默，但沉默或扩展的重复区域似乎没有明显的外显表型。可变剪接导致多个转录变异体。这个基因的一个假基因已经在X染色体上定义。[由RefSeq, 2013年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TMEM185A 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
