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中文人类
OTOL1 - Otolin 1
Alias:
C1QTNF15
C1QTNF16
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这个基因编码一个分泌性的糖蛋白，具有C-末端补体Cq1样球形结构域，属于C1q/肿瘤坏死因子相关蛋白(CTRP)家族。编码的蛋白质在内耳表达，并与小脑蛋白-1和otoconin-90一起形成被称为耳石的多聚复合物，作为耳石膜的一部分。它包含大量的翻译后修饰，包括羟化脯氨酸和糖基化的赖氨酸。自然发生的基因突变与耳石异常形成和前庭功能障碍引起的平衡缺陷有关。[RefSeq,2017年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
OTOL1 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
