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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
HYAL2 - Hyaluronidase 2
Alias:
LUCA2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种弱酸性透明质酸酶。编码的蛋白质在结构上与其他更活跃的透明质酸酶相似。透明质酸酶降解透明质酸,这是细胞外基质的主要糖胺聚糖之一。认为透明质酸及其片段参与细胞增殖、迁移和分化。尽管先前认为它是一种在pH低于4时活跃的溶酶体透明质酸酶,但编码的蛋白质可能是一种GPI锚定的细胞表面蛋白质。这种透明质酸酶作为致癌病毒Jaagsiekte羊反转录病毒的受体。该基因是染色体3p21.3区域几个相关基因之一,该区域与肿瘤抑制相关。该基因编码两个可变剪接转录本变异体,仅在5'UTR不同。[RefSeq,2010年3月提供]
Related ID:
NCBI:8692
ENSEMBL:ENSG00000068001
HGNC:5321
UNIPROT:Q12891
OMIM:603551
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8692
4
4
4938 bp
53.86
37
1
6
7
HYAL2 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
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Abundance
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Interactions
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Regulation
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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
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Journal
Year
IF
No Data Found!
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