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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
LOXL2 - Lysyl Oxidase Like 2
Alias:
LOR
LOR2
WS9-14
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码赖氨酸氧化酶基因家族的成员。这个家族的典型成员对结缔组织的生物发生是必需的,编码一种依赖于细胞外铜的胺氧化酶,催化胶原蛋白和弹性蛋白中交叉链接形成的第一步。C端的高度保守的氨基酸序列似乎足以具有胺氧化酶活性,表明每个家族成员可能保留这种功能。N端保守性较差,可能在发育调控、衰老、肿瘤抑制、细胞生长控制和化学趋化性方面为每个成员赋予额外的角色。[RefSeq,2008年7月提供]
Related ID:
NCBI:4017
ENSEMBL:ENSG00000134013
HGNC:6666
UNIPROT:Q9Y4K0
OMIM:606663
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4017
1
14
107224 bp
86.72
52
--
9
25
LOXL2 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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