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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
TULP1 - TUB Like Protein 1
Alias:
RP14
LCA15
TUBL1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个类似tubby的基因家族(TULPs)成员。这个家族的成员已经在植物、脊椎动物和无脊椎动物中被识别。TULP蛋白共享一个保守的C端区域,大约由200个氨基酸残基组成。这个基因编码的蛋白质被认为在光感受器的生理学中起作用。这个基因的突变与隐性青少年视网膜色素变性症和Leber先天性夜盲-15有关。[由RefSeq提供,2016年11月]
Related ID:
NCBI:7287
ENSEMBL:ENSG00000112041
HGNC:12423
UNIPROT:O00294
OMIM:602280
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7287
2
15
15023 bp
60.61
564
15
6
14
TULP1 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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Status
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Link
No data available
References Literature
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