人类

TMEM67 - Transmembrane Protein 67

Alias:
MKS3
JBTS6
NPHP11
TNEM67
MECKELIN
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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定位在初级纤毛和质膜上。该基因在中心粒向顶膜迁移和初级纤毛形成中发挥作用。已发现这个基因的多个转录变异体编码不同的异构体。这个基因的缺陷是Meckel综合症3型(MKS3)和Joubert综合症6型(JBTS6)的病因。[由RefSeq,2008年11月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6
28
77810 bp
111.75
878
12
6
29

TMEM67 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* 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
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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Sequence
Comparison
Al agent
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