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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
小鼠
Slc34a1 - solute carrier family 34 (sodium phosphate), member 1
Alias:
Npt2
Npt2a
Slc17a2
NaPi-IIa
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有预测的PDZ结构域结合活性;相同的蛋白质结合活性;以及钠:磷酸盐对称载体活性。在骨骼重塑的上游或内部发挥作用。位于基底侧质膜和囊泡中。在泌尿生殖系统、回肠、骨架和牙齿中表达。用于研究遗传性低磷血症性佝偻病伴高钙尿症。此基因的人类同源物涉及几种疾病,包括Fanconi综合征(多种)、慢性肾病、遗传性低磷血症性佝偻病伴高钙尿症、低磷血症性肾结石/骨质疏松症1和肾结石。与人类SLC34A1(溶质载体家族34成员1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20505
ENSEMBL:ENSMUSG00000021490
UNIPROT:Q60825
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
20505
3
13
15074 bp
Unknown
7
12
Slc34a1 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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