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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
CA4 - Carbonic Anhydrase 4
Alias:
CAIV
Car4
RP17
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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。该基因编码一种糖磷脂酰肌醇锚定的膜异构酶,表达在肺(和其他某些)毛细血管和肾小管的近端表面。其确切功能尚不清楚;然而,它可能参与遗传性碳酸氢盐转运异常。[由RefSeq,2008年7月提供]
Related ID:
NCBI:762
ENSEMBL:ENSG00000167434
HGNC:1375
UNIPROT:P22748
OMIM:114760
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
762
10
8
29049 bp
35.03
255
3
9
21
CA4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
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
Organ
Abundance
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Interactions
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Type
Name
MGI
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Mutations
No data available
Related Drugs
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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