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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
PAPSS2 - 3'-phosphoadenosine 5'-phosphosulfate Synthase 2
Alias:
SK2
BCYM4
ATPSK2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
硫酸化是一种内源(脂质、蛋白质和碳水化合物)和外源(外来生物和药物)化合物的常见修饰。在哺乳动物中,硫酸根来源是3'-磷酸腺苷5'-磷酸硫酸酯(PAPS),由ATP和无机硫酸盐生成。两个不同的组织异构体由不同的基因编码合成PAPS。这个基因编码两种PAPS合成酶之一。这个基因的缺陷导致巴基斯坦型脊柱骨代谢异常。这个基因有两个可变剪接的转录变异体,编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:9060
ENSEMBL:ENSG00000198682
HGNC:8604
UNIPROT:O95340
OMIM:603005
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9060
2
13
87828 bp
69.50
263
2
5
13
PAPSS2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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Status
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Link
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References Literature
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No Data Found!
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