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中文人类
FGD1 - FYVE, RhoGEF And PH Domain Containing 1
Alias:
AAS
FGDY
MRXS16
ZFYVE3
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这个基因编码一个含有Dbl(DH)和pleckstrin(PH)同源结构域的蛋白质，与Rho家族的小GTP结合蛋白相似。编码的蛋白质特异性地结合Rho家族GTP酶Cdc42Hs，并能刺激其异戊二烯化的形式的GDP-GTP交换。它还能刺激有丝分裂原激活的蛋白激酶级联，导致c-Jun激酶SAPK/JNK1的激活。这个基因的缺陷是Aarskog-Scott综合征和X连锁认知残疾综合征的原因。[RefSeq,2017年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FGD1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
Alphabetical
Interactions
Acting
Regulation
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Target
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Score
Related Mouse Models
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Name
MGI
Strain of Origin
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References Literature
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