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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
小鼠
Rp1l1 - retinitis pigmentosa 1 homolog like 1
Alias:
Dcdc4
Rp1hl1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个双皮质素家族的成员。这个蛋白质是视网膜特异性的蛋白质。它包含两个N-端双皮质素结构域,可以组装并稳定轴丝微管,但缺乏C-端重复区域,包括人类RP1L1中存在的16aa重复。这个蛋白质和RP1蛋白质(另一种视网膜特异性蛋白质)在影响光敏感性和棒状光感受器的外段形态发生方面发挥基本和协同作用。[由RefSeq,2010年9月提供]
Related ID:
NCBI:271209
ENSEMBL:ENSMUSG00000046049
UNIPROT:Q8CGM2
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
271209
1
4
41076 bp
199.69
4
4
Rp1l1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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