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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
CEP19 - Centrosomal Protein 19
Alias:
MOSPGF
C3orf34
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Description
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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到中心体和初级纤毛,并与母中心粒的标志物共定位。这个基因位于人类染色体3区,与病理性肥胖有关。小鼠中该基因的同源基因的纯合敲除导致小鼠出现病理性肥胖、食欲过盛、葡萄糖耐受不良和胰岛素抵抗。这个基因的突变导致病理性肥胖和精子生成失败(MOSPGF)。这个基因在人类染色体2上有一个假基因。[由RefSeq,2014年4月提供]
Related ID:
NCBI:84984
ENSEMBL:ENSG00000174007
HGNC:28209
UNIPROT:Q96LK0
OMIM:615586
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84984
4
3
5974 bp
19.17
99
2
6
8
CEP19 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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