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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
CBLN1 - Cerebellin 1 Precursor
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个特定于小脑的前体蛋白precerebellin,它与补体成分C1qB的球形(非胶原样)结构域相似。precerebellin被加工成几个衍生物,包括16肽cerebellin,它在Purkinje细胞的突触后结构中高度丰富。cerebellin也在人和大鼠肾上腺中发现,在那里它已被证明能增强这个腺体的分泌活性。[RefSeq,2008年8月提供]
Related ID:
NCBI:869
ENSEMBL:ENSG00000102924
HGNC:1543
UNIPROT:P23435
OMIM:600432
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
869
1
3
3922 bp
21.10
4
--
7
5
CBLN1 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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References Literature
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