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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
LRIT3 - Leucine Rich Repeat, Ig-like And Transmembrane Domains 3
Alias:
CSNB1F
FIGLER4
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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纤维连接蛋白类型III结构域和C端跨膜结构域的蛋白质,以及在N端附近的亮氨酸富集重复结构域和免疫球蛋白样结构域。编码的蛋白质可能调节成纤维细胞生长因子受体并影响这些受体的修饰,这些受体在高尔基体和内质网中的糖基化方式不同。这个基因的突变与先天性静止性夜盲,1F型有关。[RefSeq提供,2013年5月]
Related ID:
NCBI:345193
ENSEMBL:ENSG00000183423
HGNC:24783
UNIPROT:Q3SXY7
OMIM:615004
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
345193
3
4
24209 bp
74.75
389
4
6
7
LRIT3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* 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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No Data Found!
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