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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
SLC4A10 - Solute Carrier Family 4 Member 10
Alias:
NCBE
NBCn2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于一个小家族的内吞作用碳酸氢盐转运蛋白(NCBTs),它们调节神经元内的pH值,脉络丛中碳酸氢根离子的分泌,以及脑细胞外液的pH值。这个基因编码的蛋白质最初被鉴定为钠驱动的氯离子碳酸氢盐交换体(NCBE),尽管现在有证据表明,在生理条件下,其钠/碳酸氢盐共同转运活性与任何氯离子的反向转运无关。这个基因现在被归类为SLC4家族成员A10的膜溶质载体。可选的剪接导致多个转录变异体,它们编码不同的异构体。[RefSeq,2010年5月提供]
Related ID:
NCBI:57282
ENSEMBL:ENSG00000144290
HGNC:13811
UNIPROT:Q6U841
OMIM:605556
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57282
27
27
360855 bp
125.95
66
--
6
7
SLC4A10 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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