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中文人类
LZTFL1 - Leucine Zipper Transcription Factor Like 1
Alias:
BBS17
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这个基因编码一种在细胞质中广泛表达的蛋白质。这种蛋白质与Bardet-Biedl综合症（BBS）蛋白相互作用，并通过与其BBS蛋白复合物的相互作用，调节蛋白质向纤毛膜的运输。这个基因的无义突变导致一种Bardet-Biedl综合症的形式；部分特征是多指、肥胖、认知障碍、性腺功能减退和肾衰竭。这个基因还可以作为肿瘤抑制因子；可能通过与E-钙粘附素和肌动蛋白细胞骨架相互作用，从而调节上皮细胞向间充质细胞的转化。[RefSeq,2020年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LZTFL1 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
