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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
FKBP4 - FKBP Prolyl Isomerase 4
Alias:
HBI
p52
Hsp56
FKBP51
FKBP52
FKBP59
PPIase
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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免疫磷脂蛋白家族的成员,在免疫调节和涉及蛋白质折叠和运输的基本细胞过程中发挥作用。这个编码的蛋白质是一种顺反脯氨酰异构酶,可以与免疫抑制剂FK506和雷帕霉素结合。它具有与FK506结合蛋白1A(FKBP1A)高度结构和功能相似性,但与FKBP1A不同,这个蛋白质在与FK506复合时没有免疫抑制作用。它与干扰素调节因子-4相互作用,并在B和T淋巴细胞中免疫调节基因表达中发挥重要作用。这个编码的蛋白质已知与植烷酰辅酶Aα-羟化酶结合。它还可以与两种热休克蛋白(hsp90和hsp70)结合,从而可能在类固醇激素受体异源寡聚体的内质网中发挥作用。这个蛋白质与腺相关病毒2型载体(AAV)有很强的相关性,导致人细胞系中AAV介导的转基因表达显著增加。因此,这个编码的蛋白质被认为对人类基因治疗中AAV载体的最佳使用具有重要意义。人类基因组含有几个与这个基因类似的非转录假基因。[由RefSeq,2008年9月提供]
Related ID:
NCBI:2288
ENSEMBL:ENSG00000004478
HGNC:3720
UNIPROT:Q02790
OMIM:600611
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2288
2
10
10454 bp
51.80
20
--
9
26
FKBP4 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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