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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
SLC22A12 - Solute Carrier Family 22 Member 12
Alias:
RST
UAT
OAT4L
URAT1
hURAT1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是有机阴离子转运体(OAT)家族的一员,作为尿酸盐转运体调节血液中的尿酸盐水平。这种蛋白质主要是一个整合膜蛋白,主要存在于肾脏近端小管的上皮细胞中。血清尿酸盐水平升高(高尿酸血症)与痛风发病率增加有关,而此基因的突变导致肾型1型低尿酸血症。可变剪接导致多个转录变异体。[RefSeq,2013年1月提供]
Related ID:
NCBI:116085
ENSEMBL:ENSG00000197891
HGNC:17989
UNIPROT:Q96S37
OMIM:607096
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
116085
6
10
11125 bp
59.63
224
2
6
18
SLC22A12 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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