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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
FHOD1 - Formin Homology 2 Domain Containing 1
Alias:
FHOS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于formin/diaphanous家族蛋白的成员。这个基因在细胞中普遍表达,但在脾中丰富。编码的蛋白在Formin同源性(FH)1和FH2结构域内与diaphanous和formin蛋白具有序列同源性。它还包含一个螺旋-螺旋结构域,一个胶原样结构域,两个核定位信号,以及几个潜在的PKC和PKA磷酸化位点。它是一个主要位于细胞质中的蛋白,在各种人细胞系中表达。可变剪接导致多个转录变异体。[RefSeq,2015年12月提供]
Related ID:
NCBI:29109
ENSEMBL:ENSG00000135723
HGNC:17905
UNIPROT:Q9Y613
OMIM:606881
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
29109
11
22
18093 bp
126.55
60
--
5
17
FHOD1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
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