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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
CFC1 - Cryptic, EGF-CFC Family Member 1
Alias:
HTX2
CFC1B
DTGA2
CRYPTIC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个表皮生长因子(EGF)家族成员,该家族参与胚胎发育过程中的信号传导。这个家族的蛋白质共享一个变异的EGF样基序,一个保守的富含半胱氨酸的结构域,和一个C端疏水区域。这个基因编码的蛋白质对左右胚胎轴的模式化是必要的。这个基因的突变与器官发育缺陷有关,包括常染色体内脏异位和先天性心脏病。已经观察到了这个基因的替代剪接转录变异体,它们编码多种异构体。[由RefSeq,2012年7月提供]
Related ID:
NCBI:55997
ENSEMBL:ENSG00000136698
HGNC:18292
UNIPROT:P0CG37
OMIM:605194
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55997
4
6
7411 bp
24.61
25
6
4
6
CFC1 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
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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