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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
HPCAL1 - Hippocalcin Like 1
Alias:
BDR1
HLP2
VILIP-3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是神经元特异性的钙结合蛋白家族的一员,存在于视网膜和大脑中。它与人类hippocalcin蛋白质高度相似,与大鼠和小鼠的hippocalcin-like 1蛋白质非常相似。它可能参与视紫红质磷酸化的钙依赖性调节,并可能与中枢神经系统中的神经元信号传导有关。已发现该基因有几个编码相同蛋白质的可变剪接转录变异体。[RefSeq,2012年4月提供]
Related ID:
NCBI:3241
ENSEMBL:ENSG00000115756
HGNC:5145
UNIPROT:P37235
OMIM:600207
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3241
19
5
124701 bp
22.31
5
--
4
8
HPCAL1 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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