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中文人类
ATN1 - Atrophin 1
Alias:
B37
HRS
NOD
DRPLA
CHEDDA
D12S755E
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牙周炎性苍白球路易体萎缩（DRPLA）是一种罕见的神经退行性疾病，以小脑性共济失调、肌阵挛性癫痫、舞蹈症和痴呆为特征。该疾病与这个基因内的三核苷酸重复（CAG/CAA）从7-35拷贝扩展到49-93拷贝有关。编码的蛋白质包括一个丝氨酸重复序列、一个交替的酸性碱性氨基酸区域，以及可变的谷氨酰胺重复序列。可变剪接导致两种编码相同蛋白质的转录本变异体。[RefSeq,2016年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ATN1 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
