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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
LUM - Lumican
Alias:
LDC
SLRR2D
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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
这个基因编码富含亮氨酸的小蛋白聚糖(SLRP)家族的一员,包括decorin、biglycan、fibromodulin、keratocan、epiphycan和osteoglycin。在这些双功能分子中,蛋白质部分结合胶原原纤维,而高度带电的亲水性糖胺聚糖调节原纤维间的间距。Lumican是角膜的主要角蛋白硫酸酯蛋白聚糖,但也在全身的间质胶原基质中分布。Lumican可能调节胶原原纤维的组织和圆周生长,角膜透明度,以及上皮细胞的迁移和组织修复。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4060
ENSEMBL:ENSG00000139329
HGNC:6724
UNIPROT:P51884
OMIM:600616
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4060
1
3
8866 bp
38.43
14
--
6
10
LUM 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
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Related Mouse Models
Type
Name
MGI
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Related Drugs
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CAS Number
Status
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Link
No data available
References Literature
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Year
IF
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