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中文人类
TECPR2 - Tectonin Beta-propeller Repeat Containing 2
Alias:
HSAN9
SPG49
KIAA0329
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这个基因编码的蛋白质是tectonin beta-propeller重复结构域（TECPR）家族的成员，并包含TECPR和色氨酸-天冬氨酸重复（WD重复）结构域。这个基因与自噬有关，因为降低的基因表达水平与自噬受损有关。这个基因的隐性突变与一种遗传性痉挛性瘫痪（HSP）有关。HSP的特征是腿部进行性痉挛和瘫痪。还有一些证据表明，这个基因的突变与鸟射击脉络膜视网膜炎（BSCR）有关，导致脉络膜和视网膜炎症。可变剪接导致编码不同异型体的多种转录变异体。[RefSeq，2015年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TECPR2 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
