Log In|Sign Up
中文人类
SLC12A1 - Solute Carrier Family 12 Member 1
Alias:
BSC
BSC1
CCC2
BSC-1
NKCC2
加入收藏
这个基因编码一种肾脏特异性的钠-钾-氯共同转运蛋白，它在亨勒循环的升支厚段肾上皮细胞和密度斑的腔膜上表达。它在浓缩尿液中起关键作用，并占大部分NaCl重吸收。它对于如呋塞米和布美他尼等利尿剂敏感。一些类似于巴特特尔综合征的疾病是由这个基因的缺陷引起的。可变剪接产生了多个编码不同异型体的转录本。已经描述了其他的剪接变异体，但是它们的生物学有效性尚未经过实验证实。[RefSeq,2010年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC12A1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
