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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
CA3 - Carbonic Anhydrase 3
Alias:
Car3
CAIII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
碳酸酐酶III(CAIII)是一个多基因家族成员(已知至少有六个独立基因),编码碳酸酐酶同工酶。这些碳酸酐酶是一类催化二氧化碳可逆水化的金属酶,并在许多细胞类型中差异表达。CA3基因的表达具有严格的组织特异性,在骨骼肌中高水平表达,而在心脏和平滑肌中的水平要低得多。杜氏肌营养不良症携带者中的一部分CA3水平高于正常水平。该基因跨越10.3kb,包含七个外显子和六个内含子。[由RefSeq,2008年10月提供]
Related ID:
NCBI:761
ENSEMBL:ENSG00000164879
HGNC:1374
UNIPROT:P07451
OMIM:114750
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
761
1
7
10182 bp
29.56
6
--
4
12
CA3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
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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Acting
Regulation
Detail
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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