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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
PKD1L2 - Polycystin 1 Like 2 (gene/pseudogene)
Alias:
PC1L2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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References Literature
这个基因编码多囊蛋白家族的成员。这个蛋白质可能作为G蛋白偶联的成分或阳离子通道孔道的调节剂发挥作用。这个蛋白质的长形式含有11个跨膜结构域,一个latrophilin/CL-1样GPCR蛋白酶活性位点(GPS)结构域,和一个多囊蛋白-1,脂质氧化酶,α-毒素(PLAT)结构域。可变剪接产生多个编码不同异型体的转录变异体。这个基因是人类的一个多态性假基因。[由RefSeq提供,2022年5月]
Related ID:
NCBI:114780
ENSEMBL:ENSG00000166473
HGNC:21715
UNIPROT:Q7Z442
OMIM:607894
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
114780
--
119542 bp
272.51
154
--
--
6
PKD1L2 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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