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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
IHH - Indian Hedgehog Signaling Molecule
Alias:
BDA1
HHG2
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个刺猬家族蛋白质成员。编码的前原蛋白在蛋白水解过程中被加工成多个蛋白质产物,包括一个参与信号传导的N端片段。刺猬家族蛋白质是基本的分泌信号分子,调节多种发育过程,包括生长、模式形成和形态发生。这个基因编码的蛋白质特别参与骨生长和分化。这个基因的突变是导致A1型短指症的原因,其特点是手指和脚趾缩短或畸形。这个基因的突变也是导致头骨发育异常的原因。[RefSeq, Nov 2015提供]
Related ID:
NCBI:3549
ENSEMBL:ENSG00000163501
HGNC:5956
UNIPROT:Q14623
OMIM:600726
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3549
1
3
6498 bp
45.25
216
2
8
12
IHH 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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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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