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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
HAS1 - Hyaluronan Synthase 1
Alias:
HAS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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透明质酸或透明质酸酸(HA)是一种由从细菌到哺乳动物的多种生物合成的具有高分子量的分支多糖。它是细胞外基质的成分,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,并通过类似孔的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在特定组织中的归巢很重要,HA受体的过度表达与肿瘤转移有关。HAS1是编码拟议的透明质酸合成酶的新的脊椎动物基因家族的成员,其氨基酸序列与化脓性链球菌的hasA基因产物、来自非洲爪蟾的糖胺聚糖合成酶(DG42)和最近描述的鼠透明质酸合成酶具有显著同源性。可变剪接产生多种转录变异体。[RefSeq,2014年7月提供]
Related ID:
NCBI:3036
ENSEMBL:ENSG00000105509
HGNC:4818
UNIPROT:Q92839
OMIM:601463
Basic Information
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Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
3036
4
5
10880 bp
64.83
36
--
5
5
HAS1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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