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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
HYAL3 - Hyaluronidase 3
Alias:
LUCA3
HYAL-3
LUCA-3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码透明质酸酶家族的一员。透明质酸酶是内糖苷酶酶,可以降解透明质酸,这是细胞外基质的主要糖胺聚糖之一。透明质酸的正常更新在许多生物过程中起着关键作用,包括细胞增殖、迁移和分化。编码的蛋白质也可能在精子功能中扮演重要角色。这个基因是位于染色体3p21.3的一个区域的几种相关基因之一,这个区域与肿瘤抑制有关。特定转录变异体的表达可能表明肿瘤状态。已经观察到这个基因的替代剪接转录变异体编码多种异构体,一些异构体可能缺乏透明质酸酶活性。这个基因与N-乙酰转移酶6(GCN5相关)重叠且在同一链上,每个基因的一些转录本共享第一部分外显子的一部分。[由RefSeq,2011年1月提供]
Related ID:
NCBI:8372
ENSEMBL:ENSG00000186792
HGNC:5322
UNIPROT:O43820
OMIM:604038
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8372
5
4
6574 bp
46.50
31
--
2
6
HYAL3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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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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Name
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Status
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References Literature
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