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中文人类
TMEM107 - Transmembrane Protein 107
Alias:
MKS13
JBTS29
GRVS638
PRO1268
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这个基因编码一种跨膜蛋白，是初级纤毛过渡区的成分。编码的蛋白调控纤毛形成和纤毛蛋白组成。人类成纤维细胞表达这个基因的突变等位基因时，纤毛数量减少，纤毛长度改变，并影响音速hedgehog信号传导。在人类患者中，这个基因的不同突变导致不同的纤毛疾病，包括Meckel-Gruber综合征和口面指综合症。[RefSeq提供，2017年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TMEM107 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
