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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
P4HA3 - Prolyl 4-hydroxylase Subunit Alpha 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
这个基因编码一个4-羟基脯氨酸成分,这是胶原合成中的关键酶,由两个相同的alpha亚基和两个beta亚基组成。编码的蛋白质是几种不同类型的alpha亚基中的一种,并为活性酶的催化位点提供了主要部分。在胶原和相关蛋白质中,4-羟基脯氨酸酶催化4-羟脯氨酸的形成,这对于新合成的原胶原链的正确三维折叠是必不可少的。选择性剪接导致多个转录变异体。[由RefSeq,2014年1月提供]
Related ID:
NCBI:283208
ENSEMBL:ENSG00000149380
HGNC:30135
UNIPROT:Q7Z4N8
OMIM:608987
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
283208
3
13
61495 bp
61.13
27
--
4
7
P4HA3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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