人类
TTR - Transthyretin
Alias:
CTS
TTN
ATTR
CTS1
PALB
TBPA
HEL111
HsT2651
Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码三种前白蛋白之一,包括α1-抗胰蛋白酶、甲状腺素转运蛋白和舌上皮分泌糖蛋白。编码的蛋白质,甲状腺素转运蛋白,是一种同源四聚体载体蛋白,在血浆和脑脊液中运输甲状腺激素。它还与视黄醇结合蛋白结合,参与血浆中视黄醇(维生素A)的运输。该蛋白质可能还涉及其他细胞内过程,包括蛋白水解、神经再生、自噬和血糖平衡。这个基因的突变与淀粉样蛋白沉积有关,主要影响外周神经或心脏,而基因突变的一小部分是非淀粉样蛋白的。这些突变与几种疾病的病因有关,包括淀粉样性多神经病变、甲状腺功能正常的甲状腺功能亢进、淀粉样性玻璃体混浊、心肌病、眼脑膜血管淀粉样变性、脑膜脑血管淀粉样变性以及腕管综合症。[由RefSeq,2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1
4
6945 bp
15.89
330
8
16
127
TTR Genetics information (+)
GRCh38
Chr : -
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* 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
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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Mutation Direct
Sequence
Comparison
Al agent
Sources
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