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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
PRELP - Proline And Arginine Rich End Leucine Rich Repeat Protein
Alias:
MST161
SLRR2A
MSTP161
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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
这个基因编码的蛋白质是一种存在于结缔组织细胞外基质中的富含亮氨酸重复序列的蛋白质。这种蛋白质作为将基底层锚定在下方结缔组织的分子起作用。这种蛋白质已被证明能将I型胶原锚定在基底层,将II型胶原锚定在软骨上。它还能与基底层硫酸软骨素蛋白聚糖佩勒坎结合。这种蛋白质被认为参与了哈金森-吉尔福德早老症(HGP)的发病机制,据报道,HGP缺乏基底层和软骨中的胶原结合。观察到了编码相同蛋白质的可变剪接转录变体。[由RefSeq提供,2008年7月]
Related ID:
NCBI:5549
ENSEMBL:ENSG00000188783
HGNC:9357
UNIPROT:P51888
OMIM:601914
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5549
2
3
15547 bp
43.81
19
--
4
6
PRELP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
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No data available
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CAS Number
Status
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Link
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References Literature
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Journal
Year
IF
No Data Found!
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