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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
LRRK1 - Leucine Rich Repeat Kinase 1
Alias:
OSMD
RIPK6
Roco1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有多个结构域的蛋白质,该蛋白质是一个富含亮氨酸的重复序列激酶和一个GDP/GTP结合蛋白。认为该编码的蛋白质在骨质量的调节中起作用。缺乏类似基因的小鼠表现出严重的骨病理性骨质增加、骨矿化增加和骨吸收减少。[由RefSeq,2017年1月提供]
Related ID:
NCBI:79705
ENSEMBL:ENSG00000154237
HGNC:18608
UNIPROT:Q38SD2
OMIM:610986
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79705
1
34
158901 bp
225.39
638
1
10
12
LRRK1 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
Alphabetical
Interactions
Reset
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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