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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
UGT2B17 - UDP Glucuronosyltransferase Family 2 Member B17
Alias:
BMND12
UDPGT2B17
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码二磷酸尿苷葡萄糖醛酸转移酶蛋白家族的成员。编码的酶催化尿苷二磷酸葡萄糖醛酸中的葡萄糖醛酸转移到各种底物,包括类固醇激素和脂溶性药物。这个过程被称为葡萄糖醛酸化,是类固醇代谢的中介步骤。这个基因的拷贝数变异与骨质疏松症的易感性有关。[RefSeq,2010年4月提供]
Related ID:
NCBI:7367
ENSEMBL:ENSG00000197888
HGNC:12547
UNIPROT:O75795
OMIM:601903
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7367
1
7
39150 bp
61.09
25
1
4
8
UGT2B17 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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References Literature
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No Data Found!
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