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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
ATP8A1 - ATPase Phospholipid Transporting 8A1
Alias:
ATPIA
ATPP2
ATPASEII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
P-型三磷酸腺苷酶(P-型ATP酶)是一类利用ATP水解的自由能驱动离子在膜上下山的运输的蛋白质家族。已识别出P-型ATP酶的几个亚家族。一个亚家族催化重金属离子的运输。另一个亚家族运输非重金属离子(NMHI)。此基因编码的蛋白质是P-型ATP酶的第三个亚家族的成员,用于运输两亲物,如磷脂酰丝氨酸。已发现此基因的两个转录变异体,编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:10396
ENSEMBL:ENSG00000124406
HGNC:13531
UNIPROT:Q9Y2Q0
OMIM:609542
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10396
12
37
248733 bp
131.37
25
--
5
10
ATP8A1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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References Literature
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