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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
RCN1 - Reticulocalbin 1
Alias:
RCN
RCAL
PIG20
HEL-S-84
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
网状钙结合蛋白1是一种位于内质网腔内的钙结合蛋白。该蛋白质含有六个与高亲和力Ca(+2)结合基序EF-hand相似的保护区域。与小鼠网状钙结合蛋白相比,这些基序外的氨基酸残基的高度保守性与除了钙结合以外的可能生物化学功能一致。在人内皮和前列腺癌细胞系中,该蛋白质定位到质膜上。[由RefSeq,2009年1月提供]
Related ID:
NCBI:5954
ENSEMBL:ENSG00000049449
HGNC:9934
UNIPROT:Q15293
OMIM:602735
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5954
1
6
14649 bp
38.89
20
--
5
12
RCN1 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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