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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
RELN - Reelin
Alias:
RL
ETL7
LIS2
PRO1598
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种大型分泌性细胞外基质蛋白,被认为在大脑发育过程中控制细胞间相互作用,这些相互作用对细胞的定位和神经元的迁移至关重要。这种蛋白质可能涉及精神分裂症、自闭症、双相情感障碍、重度抑郁症以及与颞叶癫痫相关的迁移缺陷。这个基因的突变与常染色体隐性小脑发育不全伴小脑发育不良有关。已经发现了这个基因的两个转录变异体,它们编码不同的异构体。已经描述了其他转录变异体,但它们的全长性质尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5649
ENSEMBL:ENSG00000189056
HGNC:9957
UNIPROT:P78509
OMIM:600514
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
5649
2
65
517870 bp
388.39
2942
10
25
9
RELN Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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