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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
UGT2A1 - UDP Glucuronosyltransferase Family 2 Member A1 Complex Locus
Alias:
UDPGT2A1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于UDP-糖基转移酶家族。这个蛋白质家族的成员在结合并随后消除可能有毒的外源物质和内源性化合物中发挥作用。编码的酶在嗅觉神经上皮中表达,该上皮位于后鼻腔并暴露于各种气味剂和空气传播有毒化合物。因此,这个蛋白质被认为涉及从感觉上皮清除亲脂性气味分子。这个基因与编码N-末端不同的异构体的UDP-葡糖醛酸转移酶2A2家族成员共享外显子结构。这个基因的多态性可能与一些人在SARS-CoV-2感染期间报告的味觉和嗅觉丧失有关。[RefSeq,2022年1月提供]
Related ID:
NCBI:10941
ENSEMBL:ENSG00000173610
HGNC:12542
UNIPROT:P0DTE4
OMIM:604716
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10941
5
7
64831 bp
59.96
31
--
1
9
UGT2A1 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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