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中文人类
FKBP14 - FKBP Prolyl Isomerase 14
Alias:
EDSKMH
FKBP22
IPBP12
EDSKSCL2
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这个基因编码的蛋白质是肽基-脯氨酸顺反异构酶的FK506结合蛋白家族成员。该编码蛋白质位于内质网腔内，被认为可以加速蛋白质折叠。这个基因的缺陷是导致一种类型的埃勒斯-丹洛斯综合症（EDS）的原因。一个蛋白质编码变体和非编码变体都从这个基因转录。[RefSeq,2012年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FKBP14 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
