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中文人类
AHI1 - Abelson Helper Integration Site 1
Alias:
ORF1
AHI-1
JBTS3
dJ71N10.1
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这个基因显然在人类的小脑和皮质发育中都是必需的。这个基因的突变导致特定类型的Joubert综合征相关疾病。Joubert综合征（JS）是一种隐性遗传的发育性脑障碍，已经确定了几个致病染色体位点。已经发现了编码不同异构体的可变剪接转录变异体。[由RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AHI1 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
