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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
SLC52A1 - Solute Carrier Family 52 Member 1
Alias:
PAR2
RFT1
RBFVD
RFVT1
hRFT1
GPCR42
GPR172B
huPAR-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
生物氧化还原反应需要电子供体和受体。维生素B2是黄素腺嘌呤二核苷酸(FAD)和黄素单核苷酸(FMN)中黄素的来源,这些是常见的氧化还原试剂。这个基因编码核黄素(维生素B2)转运蛋白家族的一员。这个蛋白的单倍不足可能导致母体核黄素缺乏。已经发现了多种可变剪接的变异体,它们编码相同的蛋白质。[由RefSeq,2013年1月提供]
Related ID:
NCBI:55065
ENSEMBL:ENSG00000132517
HGNC:30225
UNIPROT:Q9NWF4
OMIM:607883
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55065
5
5
9813 bp
46.32
159
1
5
8
SLC52A1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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