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中文人类
KATNIP - Katanin Interacting Protein
Alias:
JBTS26
KIAA0556
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这个基因编码一种新的、进化保守的纤毛蛋白。在人类hTERT-RPE1细胞中，该蛋白位于纤毛基部，装饰纤毛轴突，并在纤毛尖端富集。该蛋白在体外与微管结合，并在过表达时调节其稳定性。这个基因的缺失突变与Joubert综合征有关，这是一种由独特的中后脑和小脑畸形特征的隐性紊乱，也常常与更广泛的纤毛病症状相关。一致的是，在血清饥饿纤毛生成试验中，来自患者突变细胞的成纤维细胞显示具有异常长纤毛的纤毛细胞数量减少。[RefSeq，2016年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
KATNIP 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
