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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
IL1RAPL1 - Interleukin 1 Receptor Accessory Protein Like 1
Alias:
IL1R8
MRX10
MRX21
MRX34
OPHN4
IL1RAPL
TIGIRR-2
IL1RAPL-1
IL-1RAPL-1
IL-1-RAPL-1
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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白细胞介素1受体家族的一员,与白细胞介素1辅助蛋白相似。这个蛋白质具有N端信号肽、三个细胞外的免疫球蛋白Ig样结构域、一个跨膜结构域、一个细胞内的Toll/IL-1R结构域和一个与多个信号分子相互作用的C端长尾。这个基因位于染色体X上一个与非综合征性X连锁智力障碍相关的区域。在智力障碍患者中发现了这个基因的缺失和突变。这个基因在出生后大脑中参与海马记忆系统的结构中以高水平表达,这表明它在记忆和学习能力的生理过程中具有特殊作用,并在突触形成和稳定中发挥重要作用。[由RefSeq,2017年7月提供]
Related ID:
NCBI:11141
ENSEMBL:ENSG00000169306
HGNC:5996
UNIPROT:Q9NZN1
OMIM:300206
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11141
3
11
1369273 bp
79.97
186
2
6
11
IL1RAPL1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Status
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Link
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References Literature
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