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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
FXYD6 - FXYD Domain Containing Ion Transport Regulator 6
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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FXYD家族的一种跨膜蛋白。这种特定的蛋白质编码磷酸肌醇, 可能影响Na,K-ATP酶的活性。已经描述了多种可变剪接转录本,它们编码相同的蛋白质。在染色体10和X上已经发现了相关的假基因。已经观察到这个基因座与下游的钠/钾转运ATP酶亚单位γ(FXYD2, GeneID 486)基因座之间存在读穿转录。[RefSeq, 2011年2月提供]
Related ID:
NCBI:53826
ENSEMBL:ENSG00000137726
HGNC:4030
UNIPROT:Q9H0Q3
OMIM:606683
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
53826
5
8
40450 bp
10.54
1
--
4
7
FXYD6 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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Protein
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* This data comes from NCBI.
Gene Expression
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Regulation
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Name
MGI
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Status
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No data available
References Literature
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