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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
HAS2 - Hyaluronan Synthase 2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
透明质酸或透明质酸酸(HA)是一种由各种生物,从细菌到哺乳动物合成的高分子量分支多糖,是细胞外基质的成分。它由交替的葡萄糖醛酸和N-乙酰葡糖胺残基组成,通过β-1-3和β-1-4糖苷键连接。HA在质膜内表面通过膜结合的合成酶合成,并通过孔状结构排入细胞外空间。它具有多种功能,包括空间填充、关节润滑和提供细胞迁移的基质。在伤口愈合和组织修复过程中,HA被积极产生,为血管和成纤维细胞的生长提供框架。HA血清浓度的变化与炎性和退行性关节病如类风湿关节炎有关。此外,HA与白细胞受体CD44的相互作用对白细胞的组织特异性归巢很重要,HA受体的过表达与肿瘤转移有关。HAS2是编码假定透明质酸合成酶的新的脊椎动物基因家族的成员,其氨基酸序列与来自Xenopus laevis、人和鼠的透明质酸合成酶1的糖胺聚糖合成酶(DG42)具有显著同源性。[RefSeq,2008年7月提供]
Related ID:
NCBI:3037
ENSEMBL:ENSG00000170961
HGNC:4819
UNIPROT:Q92819
OMIM:601636
Basic Information
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Exons
Length
MW (kDa)
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Reference
3037
1
4
29325 bp
63.57
11
--
11
11
HAS2 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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