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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TTLL1 - TTL Family Tubulin Polyglutamylase Complex Subunit L1
Alias:
TPGS3
C22orf7
HS323M22B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
预测能够使微管蛋白结合活性和微管蛋白谷氨酸连接酶活性增强。预测参与微管细胞骨架组织和蛋白质多谷氨酸化过程。预测在几个过程的上游或内部发挥作用,包括小脑普肯耶细胞分化;粘液纤毛清除;以及调控胚泡发育。预测位于细胞质;细胞外区域;和微管细胞骨架中。预测在纤毛中活性。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:25809
ENSEMBL:ENSG00000100271
HGNC:1312
UNIPROT:O95922
OMIM:608955
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
25809
1
11
49876 bp
48.99
18
--
8
8
TTLL1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
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
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Interactions
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Acting
Regulation
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Residues
Reference
Score
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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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