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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
CA1 - Carbonic Anhydrase 1
Alias:
CAB
CA-I
Car1
HEL-S-11
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
碳酐酶(CAs)是一类大型锌金属酶家族,能催化二氧化碳的可逆水合作用。它们参与多种生物过程,包括呼吸、钙化、酸碱平衡、骨吸收和房水、脑脊髓液、唾液和胃酸的形成。它们在组织分布和亚细胞定位方面表现出广泛的多样性。这个CA1基因与染色体8上的CA2和CA3基因紧密关联。它编码一个在红细胞中含量最高的胞质蛋白。这个基因的一些等位变异在一些人群中已有描述。可选的剪接和使用可选的启动子导致多个转录变异体。[RefSeq,2016年11月提供]
Related ID:
NCBI:759
ENSEMBL:ENSG00000133742
HGNC:1368
UNIPROT:P00915
OMIM:114800
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
759
7
8
50506 bp
28.87
17
--
2
30
CA1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
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Type
Name
MGI
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Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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