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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
SLC34A3 - Solute Carrier Family 34 Member 3
Alias:
HHRH
NPT2C
NPTIIc
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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SLC34A蛋白质转运体家族的一员,主要表达在肾脏中。它参与通过肾刷状边缘膜中的钠共转运将磷酸盐转运到细胞中,并有助于维持肾脏中的无机磷酸盐浓度。这个基因的突变与遗传性低磷酸盐性软骨病和钙尿过多有关。已经发现这个基因的5'UTR中有不同剪接的转录变异体。[由RefSeq,2010年4月提供]
Related ID:
NCBI:142680
ENSEMBL:ENSG00000198569
HGNC:20305
UNIPROT:Q8N130
OMIM:609826
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
142680
15
13
6826 bp
63.55
494
2
4
5
SLC34A3 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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